A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013160



Internal ID18755691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44284605..44325240hg38UCSC Ensembl
Innerchr2:44511744..44552379hg19UCSC Ensembl
Innerchr2:44365248..44405883hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3840636
hg1940636
hg1840636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3799n100
Supporting Variantsnssv3581591
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013160
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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