A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998145



Internal ID18810995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74969670..75241030hg38UCSC Ensembl
Innerchr2:75196797..75468156hg19UCSC Ensembl
Innerchr2:75050305..75321664hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38271361
hg19271360
hg18271360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731980
Samples
Known GenesMIR5000, POLE4, TACR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998145
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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