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dbVar

Database of genomic structural variation

nsv5542853

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: 135 SVs from 19 studies. See in: genome view

Submitted genomic17,764,813-17,764,813

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5542853	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	17,764,813	17,764,813
nsv5542853	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	17,766,436	17,766,436

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16948312	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16948312	Submitted genomic		NC_000004.12:g.177 64813_17764814ins7 15	GRCh38 (hg38)		NC_000004.12	Chr4	17,764,813	17,764,813
nssv16948312	Remapped	Perfect	NC_000004.11:g.177 66436_17766437ins7 15	GRCh37.p13	First Pass	NC_000004.11	Chr4	17,766,436	17,766,436

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)
nssv16948312	0.021	133	6384

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