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dbVar

Database of genomic structural variation

nsv6634438

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:1,262,337

Description:GRCh37/hg19 17q12(chr17:34842544-36104875)x3 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: 3778 SVs from 99 studies. See in: genome view

Remapped(Score: Good):36,486,700-37,744,884

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6634438	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000017.11	Chr17	36,486,700	37,744,884
nsv6634438	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	721,604	1,983,940
nsv6634438	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	34,842,544	36,104,875

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326333	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002292965.4, VCV001711449.5	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18326333	Remapped	Perfect	NT_187614.1:g.(?_7 21604)_(1983940_?) dup	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	721,604	1,983,940
nssv18326333	Remapped	Good	NC_000017.11:g.(?_ 36486700)_(3774488 4_?)dup	GRCh38.p12	Second Pass	NC_000017.11	Chr17	36,486,700	37,744,884
nssv18326333	Submitted genomic		NC_000017.10:g.(?_ 34842544)_(3610487 5_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	34,842,544	36,104,875

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
nssv18326333	GRCh37: NC_000017.10:g.(?_34842544)_(36104875_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV002292965.4, VCV001711449.5	3

No genotype data were submitted for this variant

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