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dbVar

Database of genomic structural variation

nsv5551554

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

Submitted genomic127,777,673-127,777,673

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5551554	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	127,777,673	127,777,673
nsv5551554	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	127,496,516	127,496,516

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16939575	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16939575	Submitted genomic		NC_000003.12:g.127 777673_127777674in s192	GRCh38 (hg38)		NC_000003.12	Chr3	127,777,673	127,777,673
nssv16939575	Remapped	Perfect	NC_000003.11:g.127 496516_127496517in s192	GRCh37.p13	First Pass	NC_000003.11	Chr3	127,496,516	127,496,516

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)
nssv16939575	0.076	482	6326

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