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dbVar

Database of genomic structural variation

nsv5452821

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:64

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: 334 SVs from 45 studies. See in: genome view

Submitted genomic1,379,777-1,379,840

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5452821	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	1,379,777	1,379,840
nsv5452821	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	1,373,565	1,373,628

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16945620	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16945620	Submitted genomic		NC_000004.12:g.137 9777_1379840del	GRCh38 (hg38)		NC_000004.12	Chr4	1,379,777	1,379,840
nssv16945620	Remapped	Perfect	NC_000004.11:g.137 3565_1373628del	GRCh37.p13	First Pass	NC_000004.11	Chr4	1,373,565	1,373,628

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)
nssv16945620	0.593	3797	6400

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