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dbVar

Database of genomic structural variation

nsv4742715

Organism: Homo sapiens

Study:nstd199 (Quan et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,355

Publication(s):Quan et al. 2021

Links to Other Resources

Overlapping Genes

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: 316 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):198,310-199,257

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4742715	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	198,310	199,257
nsv4742715	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315952.3	Chr17\|NW_0 03315952.3	136,958	138,312
nsv4742715	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	48,101	49,048

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16261608	duplication	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16261608	Remapped	Pass	NW_003315952.3:g.1 36958_138312dup	GRCh38.p12	Second Pass	NW_003315952.3	Chr17\|NW_0 03315952.3	136,958	138,312
nssv16261608	Remapped	Perfect	NC_000017.11:g.198 310_199257dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	198,310	199,257
nssv16261608	Submitted genomic		NC_000017.10:g.481 01_49048dup	GRCh37 (hg19)		NC_000017.10	Chr17	48,101	49,048

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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