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dbVar

Database of genomic structural variation

nsv5549875

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:26

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: 137 SVs from 25 studies. See in: genome view

Submitted genomic119,444,230-119,444,255

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5549875	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	119,444,230	119,444,255
nsv5549875	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	120,201,806	120,201,831

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16918125	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16918125	Submitted genomic		NC_000002.12:g.119 444230_119444255in s52	GRCh38 (hg38)		NC_000002.12	Chr2	119,444,230	119,444,255
nssv16918125	Remapped	Perfect	NC_000002.11:g.120 201806_120201831in s52	GRCh37.p13	First Pass	NC_000002.11	Chr2	120,201,806	120,201,831

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)
nssv16918125	0.01	61	6370

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