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dbVar

Database of genomic structural variation

nsv4742568

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:141

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: 200 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):41,041,207-41,041,347

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4742568	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	41,041,207	41,041,347
nsv4742568	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003871091.1	Chr17\|NW_0 03871091.1	190,600	190,740
nsv4742568	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	39,197,459	39,197,599

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16288125	deletion	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16288125	Remapped	Perfect	NW_003871091.1:g.1 90600_190740del	GRCh38.p12	Second Pass	NW_003871091.1	Chr17\|NW_0 03871091.1	190,600	190,740
nssv16288125	Remapped	Perfect	NC_000017.11:g.410 41207_41041347del	GRCh38.p12	First Pass	NC_000017.11	Chr17	41,041,207	41,041,347
nssv16288125	Submitted genomic		NC_000017.10:g.391 97459_39197599del	GRCh37 (hg19)		NC_000017.10	Chr17	39,197,459	39,197,599

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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