A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393030



Internal ID22450900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187366086..187375134hg38UCSC Ensembl
chr2:188230813..188239861hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg389049
hg199049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889266
Supporting Variants
Samples
Known GenesCALCRL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393030
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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