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dbVar

Database of genomic structural variation

nsv5521129

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:176

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: 110 SVs from 28 studies. See in: genome view

Submitted genomic18,886,091-18,886,266

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5521129	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	18,886,091	18,886,266
nsv5521129	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	18,996,900	18,997,075

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17722063	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17722063	Submitted genomic		NC_000019.10:g.188 86091_18886266del	GRCh38 (hg38)		NC_000019.10	Chr19	18,886,091	18,886,266
nssv17722063	Remapped	Perfect	NC_000019.9:g.1899 6900_18997075del	GRCh37.p13	First Pass	NC_000019.9	Chr19	18,996,900	18,997,075

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)
nssv17722063	0.006	40	6404

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