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dbVar

Database of genomic structural variation

nsv5548491

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:338

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: 143 SVs from 32 studies. See in: genome view

Submitted genomic128,499,367-128,499,704

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5548491	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	128,499,367	128,499,704
nsv5548491	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	128,139,421	128,139,758

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17005177	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17005177	Submitted genomic		NC_000007.14:g.128 499367_128499704in s92	GRCh38 (hg38)		NC_000007.14	Chr7	128,499,367	128,499,704
nssv17005177	Remapped	Perfect	NC_000007.13:g.128 139421_128139758in s92	GRCh37.p13	First Pass	NC_000007.13	Chr7	128,139,421	128,139,758

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)
nssv17005177	0.189	941	4968

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