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dbVar

Database of genomic structural variation

nsv5532142

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:87

Publication(s):Byrska-Bishop et al. 2022

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: 152 SVs from 18 studies. See in: genome view

Submitted genomic24,107,936-24,108,022

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5532142	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	24,107,936	24,108,022
nsv5532142	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	21,687,900	21,687,986

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17716677	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17716677	Submitted genomic		NC_000018.10:g.241 07936_24108022del	GRCh38 (hg38)		NC_000018.10	Chr18	24,107,936	24,108,022
nssv17716677	Remapped	Perfect	NC_000018.9:g.2168 7900_21687986del	GRCh37.p13	First Pass	NC_000018.9	Chr18	21,687,900	21,687,986

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)	Allele Count (AC)	Allele Number (AN)
nssv17716677	<0.001	4	6404

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