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dbVar

Database of genomic structural variation

nsv5417277

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:875

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: 454 SVs from 33 studies. See in: genome view

Submitted genomic1,884,768-1,885,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5417277	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	1,884,768	1,885,642
nsv5417277	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	1,816,207	1,817,081

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16902523	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16902523	Submitted genomic		NC_000001.11:g.188 4768_1885642del	GRCh38 (hg38)		NC_000001.11	Chr1	1,884,768	1,885,642
nssv16902523	Remapped	Perfect	NC_000001.10:g.181 6207_1817081del	GRCh37.p13	First Pass	NC_000001.10	Chr1	1,816,207	1,817,081

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)
nssv16902523	<0.001	2	6404

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