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dbVar

Database of genomic structural variation

nsv6634420

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:1,421,324

Description:GRCh37/hg19 17q12(chr17:34822465-36243781)x1 AND See cases

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: 4267 SVs from 100 studies. See in: genome view

Remapped(Score: Good):36,466,619-37,884,161

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6634420	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000017.11	Chr17	36,466,619	37,884,161
nsv6634420	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	701,523	2,122,846
nsv6634420	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	34,822,465	36,243,781

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326419	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV002287562.1, VCV001708189.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18326419	Remapped	Perfect	NT_187614.1:g.(701 523_?)_(?_2122846) del	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	701,523	2,122,846
nssv18326419	Remapped	Good	NC_000017.11:g.(36 466619_?)_(?_37884 161)del	GRCh38.p12	Second Pass	NC_000017.11	Chr17	36,466,619	37,884,161
nssv18326419	Submitted genomic		NC_000017.10:g.(34 822465_?)_(?_36243 781)del	GRCh37 (hg19)		NC_000017.10	Chr17	34,822,465	36,243,781

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
nssv18326419	GRCh37: NC_000017.10:g.(34822465_?)_(?_36243781)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV002287562.1, VCV001708189.1	1

No genotype data were submitted for this variant

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