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dbVar

Database of genomic structural variation

nsv4456715

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:25,087

Description:
See descriptions for individual calls in download files

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

Remapped(Score: Perfect):135,389,555-135,414,641

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4456715	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	135,389,555	135,414,641
nsv4456715	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	135,710,693	135,735,779

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15772897	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848556.2, VCV000687865.2	1
nssv17970152	copy number loss	Multiple	Multiple	not specified	Likely pathogenic	ClinVar	RCV002053624.3, VCV001527292.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15772897	Remapped	Perfect	NC_000006.12:g.(?_ 135389555)_(135414 641_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,389,555	135,414,641
nssv17970152	Remapped	Perfect	NC_000006.12:g.(?_ 135389555)_(135414 641_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	135,389,555	135,414,641
nssv15772897	Submitted genomic		NC_000006.11:g.(?_ 135710693)_(135735 779_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,710,693	135,735,779
nssv17970152	Submitted genomic		NC_000006.11:g.(?_ 135710693)_(135735 779_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	135,710,693	135,735,779

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	Copy number
nssv15772897	GRCh37: NC_000006.11:g.(?_135710693)_(135735779_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000848556.2, VCV000687865.2	1
nssv17970152	GRCh37: NC_000006.11:g.(?_135710693)_(135735779_?)del	copy number loss	germline	not specified	Likely pathogenic	ClinVar	RCV002053624.3, VCV001527292.3

No genotype data were submitted for this variant

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