A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999153



Internal ID19158689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20268168..20322193hg38UCSC Ensembl
Innerchr2:20467929..20521954hg19UCSC Ensembl
Innerchr2:20331410..20385435hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3854026
hg1954026
hg1854026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579002
Samples
Known GenesPUM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999153
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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