A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581697



Internal ID16022420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44305187..44341555hg38UCSC Ensembl
Innerchr2:44532326..44568694hg19UCSC Ensembl
Innerchr2:44385830..44422198hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3836369
hg1936369
hg1836369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6838n54
Supporting Variantsnssv908037
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581697
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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