A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581244



Internal ID16021967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27335385..27480628hg38UCSC Ensembl
Innerchr2:27558252..27703495hg19UCSC Ensembl
Innerchr2:27411756..27556999hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38145244
hg19145244
hg18145244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904594
Samples
Known GenesEIF2B4, FTH1P3, GTF3C2, IFT172, KRTCAP3, LOC100505624, NRBP1, PPM1G, SNX17, ZNF513
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581244
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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