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dbVar

Database of genomic structural variation

nsv5547961

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:1

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: 126 SVs from 27 studies. See in: genome view

Submitted genomic75,700,459-75,700,459

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5547961	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	75,700,459	75,700,459
nsv5547961	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	76,625,643	76,625,643

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16952993	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16952993	Submitted genomic		NC_000004.12:g.757 00459_75700460ins9 74	GRCh38 (hg38)		NC_000004.12	Chr4	75,700,459	75,700,459
nssv16952993	Remapped	Perfect	NC_000004.11:g.766 25643_76625644ins9 74	GRCh37.p13	First Pass	NC_000004.11	Chr4	76,625,643	76,625,643

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)
nssv16952993	0.885	5578	6300

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