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dbVar

Database of genomic structural variation

nsv5017206

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:354,198

Publication(s):Abel et al. 2020

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: 2177 SVs from 88 studies. See in: genome view

Submitted genomic368,766-722,966

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5017206	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	368,768 (-2, +62)	722,965 (-90, +1)
nsv5017206	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	368,768 (-2, +62)	722,965 (-90, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16567447	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16567447	Submitted genomic		NC_000018.10:g.(36 8766_368830)_(7228 75_722966)del	GRCh38 (hg38)		NC_000018.10	Chr18	368,768 (-2, +62)	722,965 (-90, +1)
nssv16567447	Remapped	Perfect	NC_000018.9:g.(368 766_368830)_(72287 5_722966)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	368,768 (-2, +62)	722,965 (-90, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16567447	<0.001	1	29246

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