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dbVar

Database of genomic structural variation

nsv6314553

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;ins(3;1)(q23;p22p32)dn AND multiple conditions
Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 133 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):45,068,695-45,068,695

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	45,068,695	45,068,695	+
nsv6314553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	45,068,695	45,068,695	+
nsv6314553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	69,602,146	69,602,146	+
nsv6314553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	69,602,146	69,602,146	+
nsv6314553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	147,996,707	147,996,707	+
nsv6314553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	147,996,707	147,996,707	+
nsv6314553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	45,295,834	45,295,834	+
nsv6314553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	45,295,834	45,295,834	+
nsv6314553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	69,829,278	69,829,278	+
nsv6314553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	69,829,278	69,829,278	+
nsv6314553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	147,714,494	147,714,494	+
nsv6314553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	147,714,494	147,714,494	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976007	interchromosomal translocation	Multiple	Multiple	3-5 finger syndactyly; 3-5 finger syndactyly; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Prominent forehead; Prominent forehead; Prominent occiput; Prominent occiput; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV000258775.1, VCV000267804.1
nssv17976009	copy number gain	Multiple	Multiple	3-5 finger syndactyly; 3-5 finger syndactyly; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Prominent forehead; Prominent forehead; Prominent occiput; Prominent occiput; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV000258775.1, VCV000267804.1
nssv17976008	interchromosomal translocation	Multiple	Multiple	3-5 finger syndactyly; 3-5 finger syndactyly; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Prominent forehead; Prominent forehead; Prominent occiput; Prominent occiput; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV000258775.1, VCV000267804.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17976007	Remapped	Perfect		GRCh38.p12	First Pass	NC_000002.12	Chr2	45,068,695	45,068,695	+
nssv17976009	Remapped	Perfect	NC_000002.12:g.696 02146dupNC_000002. 12:g.45068695dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	45,068,695	45,068,695
nssv17976008	Remapped	Perfect		GRCh38.p12	First Pass	NC_000002.12	Chr2	69,602,146	69,602,146	+
nssv17976009	Remapped	Perfect	NC_000002.12:g.696 02146dupNC_000002. 12:g.45068695dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	69,602,146	69,602,146
nssv17976007	Remapped	Perfect		GRCh38.p12	First Pass	NC_000003.12	Chr3	147,996,707	147,996,707	+
nssv17976008	Remapped	Perfect		GRCh38.p12	First Pass	NC_000003.12	Chr3	147,996,707	147,996,707	+
nssv17976007	Submitted genomic			GRCh37 (hg19)		NC_000002.11	Chr2	45,295,834	45,295,834	+
nssv17976009	Submitted genomic		NC_000002.11:g.452 95834dupNC_000002. 11:g.69829278dup	GRCh37 (hg19)		NC_000002.11	Chr2	45,295,834	45,295,834
nssv17976008	Submitted genomic			GRCh37 (hg19)		NC_000002.11	Chr2	69,829,278	69,829,278	+
nssv17976009	Submitted genomic		NC_000002.11:g.452 95834dupNC_000002. 11:g.69829278dup	GRCh37 (hg19)		NC_000002.11	Chr2	69,829,278	69,829,278
nssv17976007	Submitted genomic			GRCh37 (hg19)		NC_000003.11	Chr3	147,714,494	147,714,494	+
nssv17976008	Submitted genomic			GRCh37 (hg19)		NC_000003.11	Chr3	147,714,494	147,714,494	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976007		interchromosomal translocation	de novo	3-5 finger syndactyly; 3-5 finger syndactyly; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Prominent forehead; Prominent forehead; Prominent occiput; Prominent occiput; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV000258775.1, VCV000267804.1
nssv17976009	GRCh37: NC_000002.11:g.45295834dupNC_000002.11:g.69829278dup	copy number gain	de novo	3-5 finger syndactyly; 3-5 finger syndactyly; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Prominent forehead; Prominent forehead; Prominent occiput; Prominent occiput; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV000258775.1, VCV000267804.1
nssv17976008		interchromosomal translocation	de novo	3-5 finger syndactyly; 3-5 finger syndactyly; Hemangioma; Hemangioma; Hypotonia; Macrocephalus; Macrocephaly; Muscular hypotonia; Prominent forehead; Prominent forehead; Prominent occiput; Prominent occiput; Severe global developmental delay; Severe global developmental delay	Likely pathogenic	ClinVar	RCV000258775.1, VCV000267804.1

No genotype data were submitted for this variant

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