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dbVar

Database of genomic structural variation

nsv5540124

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:27

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: 252 SVs from 36 studies. See in: genome view

Submitted genomic36,161,139-36,161,165

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5540124	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	36,161,139	36,161,165
nsv5540124	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	37,533,437	37,533,463

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17726751	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17726751	Submitted genomic		NC_000021.9:g.3616 1139_36161165ins98	GRCh38 (hg38)		NC_000021.9	Chr21	36,161,139	36,161,165
nssv17726751	Remapped	Perfect	NC_000021.8:g.3753 3437_37533463ins98	GRCh37.p13	First Pass	NC_000021.8	Chr21	37,533,437	37,533,463

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)
nssv17726751	0.004	24	6402

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