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dbVar

Database of genomic structural variation

nsv5513153

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:68

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 21 studies. See in: genome view

Submitted genomic42,830,542-42,830,609

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5513153	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	42,830,542	42,830,609
nsv5513153	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	43,122,740	43,122,807

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17701977	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17701977	Submitted genomic		NC_000015.10:g.428 30542_42830609del	GRCh38 (hg38)		NC_000015.10	Chr15	42,830,542	42,830,609
nssv17701977	Remapped	Perfect	NC_000015.9:g.4312 2740_43122807del	GRCh37.p13	First Pass	NC_000015.9	Chr15	43,122,740	43,122,807

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)
nssv17701977	<0.001	1	6404

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