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dbVar

Database of genomic structural variation

nsv3875486

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:85

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: 93 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):109,792,581-109,792,665

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3875486	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	109,792,581	109,792,665
nsv3875486	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	110,113,784	110,113,868

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151906	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV000513629.3, VCV000444864.3	0
nssv15152265	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV000513394.3, VCV000444863.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15151906	Remapped	Perfect	NC_000006.12:g.(?_ 109792581)_(109792 665_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	109,792,581	109,792,665
nssv15152265	Remapped	Perfect	NC_000006.12:g.(?_ 109792581)_(109792 665_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	109,792,581	109,792,665
nssv15151906	Submitted genomic		NC_000006.11:g.(?_ 110113784)_(110113 868_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	110,113,784	110,113,868
nssv15152265	Submitted genomic		NC_000006.11:g.(?_ 110113784)_(110113 868_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	110,113,784	110,113,868

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
nssv15151906	GRCh37: NC_000006.11:g.(?_110113784)_(110113868_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV000513629.3, VCV000444864.3	0
nssv15152265	GRCh37: NC_000006.11:g.(?_110113784)_(110113868_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV000513394.3, VCV000444863.3	1

No genotype data were submitted for this variant

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