A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800599



Internal ID21245937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119421378..119421437hg38UCSC Ensembl
chr1:119964001..119964060hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13677922
Samples
Known GenesHSD3B2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800599
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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