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dbVar

Database of genomic structural variation

nsv5326324

Organism: Homo sapiens

Study:nstd204 (Chen et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:135

Publication(s):Chen 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: 91 SVs from 17 studies. See in: genome view

Submitted genomic38,791,845-38,791,996

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5326324	Submitted genomic		GRCh38.p13	Primary Assembly		NC_000022.11	Chr22	38,791,854 (-9, +8)	38,791,988 (-9, +8)
nsv5326324	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	39,187,859 (-9, +8)	39,187,993 (-9, +8)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16774261	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16774261	Submitted genomic		NC_000022.11:g.(38 791845_38791862)_( 38791979_38791996) del	GRCh38.p13		NC_000022.11	Chr22	38,791,854 (-9, +8)	38,791,988 (-9, +8)
nssv16774261	Remapped	Perfect	NC_000022.10:g.(39 187850_39187867)_( 39187984_39188001) del	GRCh37.p13	First Pass	NC_000022.10	Chr22	39,187,859 (-9, +8)	39,187,993 (-9, +8)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)
nssv16774261	<0.001

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