A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001333



Internal ID19090550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12117078..12429460hg38UCSC Ensembl
Innerchr2:12257204..12569586hg19UCSC Ensembl
Innerchr2:12174655..12487037hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38312383
hg19312383
hg18312383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576967
Samples
Known GenesMIR3681
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001333
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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