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dbVar

Database of genomic structural variation

nsv5547800

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:16

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: 107 SVs from 22 studies. See in: genome view

Submitted genomic14,055,291-14,055,306

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5547800	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	14,055,291	14,055,306
nsv5547800	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	14,166,103	14,166,118

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17721651	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17721651	Submitted genomic		NC_000019.10:g.140 55291_14055306ins5 6	GRCh38 (hg38)		NC_000019.10	Chr19	14,055,291	14,055,306
nssv17721651	Remapped	Perfect	NC_000019.9:g.1416 6103_14166118ins56	GRCh37.p13	First Pass	NC_000019.9	Chr19	14,166,103	14,166,118

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)
nssv17721651	0.142	912	6404

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