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dbVar

Database of genomic structural variation

nsv6291649

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:1,784,248

Description:GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)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: 4889 SVs from 102 studies. See in: genome view

Remapped(Score: Perfect):59,527,939-61,312,186

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6291649	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	59,527,939	61,312,186
nsv6291649	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	57,605,300	59,389,547

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956747	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001827980.1, VCV001340823.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956747	Remapped	Perfect	NC_000017.11:g.(?_ 59527939)_(6131218 6_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	59,527,939	61,312,186
nssv17956747	Submitted genomic		NC_000017.10:g.(?_ 57605300)_(5938954 7_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	57,605,300	59,389,547

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
nssv17956747	GRCh37: NC_000017.10:g.(?_57605300)_(59389547_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001827980.1, VCV001340823.1	1

No genotype data were submitted for this variant

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