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dbVar

Database of genomic structural variation

nsv4675136

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,399,747

Description:GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1 AND not provided

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: 3011 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):98,422,811-99,822,557

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675136	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	98,422,811	99,822,557
nsv4675136	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	98,870,687	100,270,433

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208081	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001005835.1, VCV000814851.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208081	Remapped	Perfect	NC_000006.12:g.(?_ 98422811)_(9982255 7_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	98,422,811	99,822,557
nssv16208081	Submitted genomic		NC_000006.11:g.(?_ 98870687)_(1002704 33_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	98,870,687	100,270,433

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
nssv16208081	GRCh37: NC_000006.11:g.(?_98870687)_(100270433_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV001005835.1, VCV000814851.1	1

No genotype data were submitted for this variant

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