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dbVar

Database of genomic structural variation

nsv5323702

Organism: Homo sapiens

Study:nstd204 (Chen et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:29,388

Publication(s):Chen et al. 2021

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: 269 SVs from 58 studies. See in: genome view

Submitted genomic63,482,081-63,511,487

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5323702	Submitted genomic		GRCh38.p13	Primary Assembly		NC_000017.11	Chr17	63,482,091 (-10, +5)	63,511,478 (-7, +9)
nsv5323702	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	61,559,452 (-10, +5)	61,588,839 (-7, +9)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16754355	duplication	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16754355	Submitted genomic		NC_000017.11:g.(63 482081_63482096)_( 63511471_63511487) dup	GRCh38.p13		NC_000017.11	Chr17	63,482,091 (-10, +5)	63,511,478 (-7, +9)
nssv16754355	Remapped	Perfect	NC_000017.10:g.(61 559442_61559457)_( 61588832_61588848) dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	61,559,452 (-10, +5)	61,588,839 (-7, +9)

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)
nssv16754355	<0.001

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