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dbVar

Database of genomic structural variation

nsv6314451

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(3;14)(q25;q11.2)dn AND Autistic behavior
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: 90 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):156,558,458-156,558,458

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314451	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	156,558,458	156,558,458	+
nsv6314451	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	156,558,462	156,558,462	+
nsv6314451	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	21,431,705	21,431,705	+
nsv6314451	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	21,431,705	21,431,705	+
nsv6314451	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	156,276,247	156,276,247	+
nsv6314451	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	156,276,251	156,276,251	+
nsv6314451	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	21,899,864	21,899,864	+
nsv6314451	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	21,899,864	21,899,864	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975771	interchromosomal translocation	Multiple	Multiple	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258693.1, VCV000267955.1
nssv17975770	interchromosomal translocation	Multiple	Multiple	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258693.1, VCV000267955.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975771	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	156,558,458	156,558,458	+
nssv17975770	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	156,558,462	156,558,462	+
nssv17975770	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,431,705	21,431,705	+
nssv17975771	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	21,431,705	21,431,705	+
nssv17975771	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	156,276,247	156,276,247	+
nssv17975770	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	156,276,251	156,276,251	+
nssv17975770	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	21,899,864	21,899,864	+
nssv17975771	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	21,899,864	21,899,864	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975771	interchromosomal translocation	de novo	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258693.1, VCV000267955.1
nssv17975770	interchromosomal translocation	de novo	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258693.1, VCV000267955.1

No genotype data were submitted for this variant

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