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dbVar

Database of genomic structural variation

nsv4741239

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:52

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: 1058 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):22,578,451-22,578,502

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4741239	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	22,578,451	22,578,502
nsv4741239	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187629.1	Chr22\|NT_1 87629.1	214,108	214,159
nsv4741239	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	22,920,891	22,920,942

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16286591	deletion	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16286591	Remapped	Perfect	NT_187629.1:g.2141 08_214159del	GRCh38.p12	Second Pass	NT_187629.1	Chr22\|NT_1 87629.1	214,108	214,159
nssv16286591	Remapped	Perfect	NC_000022.11:g.225 78451_22578502del	GRCh38.p12	First Pass	NC_000022.11	Chr22	22,578,451	22,578,502
nssv16286591	Submitted genomic		NC_000022.10:g.229 20891_22920942del	GRCh37 (hg19)		NC_000022.10	Chr22	22,920,891	22,920,942

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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