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dbVar

Database of genomic structural variation

nsv6314404

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(2;8)(q33;p21)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: 102 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):199,227,700-199,227,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314404	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	199,227,700	199,227,700	+
nsv6314404	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	199,227,701	199,227,701	-
nsv6314404	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	18,716,567	18,716,567	-
nsv6314404	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	18,716,568	18,716,568	+
nsv6314404	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	200,092,423	200,092,423	+
nsv6314404	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	200,092,424	200,092,424	-
nsv6314404	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	18,574,077	18,574,077	-
nsv6314404	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	18,574,078	18,574,078	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968615	interchromosomal translocation	Multiple	Multiple	Abnormal nervous system physiology; Abnormal nervous system physiology; EEG abnormality; EEG abnormality; Expressive language delay; Expressive language delay; Growth delay; Growth delay; Intellectual disability, severe; Intellectual disability, severe; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258521.1, VCV000267896.1
nssv17968616	interchromosomal translocation	Multiple	Multiple	Abnormal nervous system physiology; Abnormal nervous system physiology; EEG abnormality; EEG abnormality; Expressive language delay; Expressive language delay; Growth delay; Growth delay; Intellectual disability, severe; Intellectual disability, severe; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258521.1, VCV000267896.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17968615	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	199,227,700	199,227,700	+
nssv17968616	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	199,227,701	199,227,701	-
nssv17968615	Remapped	Perfect	GRCh38.p12	First Pass	NC_000008.11	Chr8	18,716,567	18,716,567	-
nssv17968616	Remapped	Perfect	GRCh38.p12	First Pass	NC_000008.11	Chr8	18,716,568	18,716,568	+
nssv17968615	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	200,092,423	200,092,423	+
nssv17968616	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	200,092,424	200,092,424	-
nssv17968615	Submitted genomic		GRCh37 (hg19)		NC_000008.10	Chr8	18,574,077	18,574,077	-
nssv17968616	Submitted genomic		GRCh37 (hg19)		NC_000008.10	Chr8	18,574,078	18,574,078	+

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
nssv17968615	interchromosomal translocation	de novo	Abnormal nervous system physiology; Abnormal nervous system physiology; EEG abnormality; EEG abnormality; Expressive language delay; Expressive language delay; Growth delay; Growth delay; Intellectual disability, severe; Intellectual disability, severe; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258521.1, VCV000267896.1
nssv17968616	interchromosomal translocation	de novo	Abnormal nervous system physiology; Abnormal nervous system physiology; EEG abnormality; EEG abnormality; Expressive language delay; Expressive language delay; Growth delay; Growth delay; Intellectual disability, severe; Intellectual disability, severe; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258521.1, VCV000267896.1

No genotype data were submitted for this variant

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