A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4016194



Internal ID22077825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232347000..232447741hg38UCSC Ensembl
Outerchr2:232344359..232453368hg38UCSC Ensembl
Innerchr2:233211710..233312451hg19UCSC Ensembl
Outerchr2:233209069..233318078hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38109010
hg19109010
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155925
Supporting Variants
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4016194
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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