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dbVar

Database of genomic structural variation

nsv6137834

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:186

Description:
See descriptions for individual calls in download files
Publication(s):van Dijk et al. 2022

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: 161 SVs from 26 studies. See in: genome view

Submitted genomic32,096,405-32,096,590

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv6137834	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000006.12	Chr6	32,096,405	32,096,590
nsv6137834	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000006.11	Chr6	32,064,182	32,064,367

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683621	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001727357.9, VCV001299027.12
nssv17956535	deletion	Multiple	Multiple	Classical-like Ehlers-Danlos syndrome type 1; EHLERS-DANLOS SYNDROME, CLASSIC-LIKE; EDSCLL; Ehlers-Danlos syndrome due to tenascin-X deficiency; TNXB-Related Classical-Like Ehlers-Danlos Syndrome	not provided	ClinVar	RCV001825016.2, VCV001299027.12
nssv18326740	deletion	Multiple	Multiple	Cardiovascular phenotype	Uncertain significance	ClinVar	RCV002449403.2, VCV001299027.12

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17683621	Submitted genomic	NC_000006.12:g.320 96405_32096590del	GRCh38 (hg38)	NC_000006.12	Chr6	32,096,405	32,096,590
nssv17956535	Submitted genomic	NC_000006.12:g.320 96405_32096590del	GRCh38 (hg38)	NC_000006.12	Chr6	32,096,405	32,096,590
nssv18326740	Submitted genomic	NC_000006.12:g.320 96405_32096590del	GRCh38 (hg38)	NC_000006.12	Chr6	32,096,405	32,096,590
nssv17683621	Submitted genomic	NC_000006.11:g.320 64182_32064367del	GRCh37 (hg19)	NC_000006.11	Chr6	32,064,182	32,064,367
nssv17956535	Submitted genomic	NC_000006.11:g.320 64182_32064367del	GRCh37 (hg19)	NC_000006.11	Chr6	32,064,182	32,064,367
nssv18326740	Submitted genomic	NC_000006.11:g.320 64182_32064367del	GRCh37 (hg19)	NC_000006.11	Chr6	32,064,182	32,064,367

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683621	GRCh37: NC_000006.11:g.32064182_32064367del, GRCh38: NC_000006.12:g.32096405_32096590del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV001727357.9, VCV001299027.12
nssv17956535	GRCh37: NC_000006.11:g.32064182_32064367del, GRCh38: NC_000006.12:g.32096405_32096590del	deletion	unknown	Classical-like Ehlers-Danlos syndrome type 1; EHLERS-DANLOS SYNDROME, CLASSIC-LIKE; EDSCLL; Ehlers-Danlos syndrome due to tenascin-X deficiency; TNXB-Related Classical-Like Ehlers-Danlos Syndrome	not provided	ClinVar	RCV001825016.2, VCV001299027.12
nssv18326740	GRCh37: NC_000006.11:g.32064182_32064367del, GRCh38: NC_000006.12:g.32096405_32096590del	deletion	germline	Cardiovascular phenotype	Uncertain significance	ClinVar	RCV002449403.2, VCV001299027.12

No genotype data were submitted for this variant

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