A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005201



Internal ID18747732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128098979..128135964hg38UCSC Ensembl
Innerchr2:128856553..128893538hg19UCSC Ensembl
Innerchr2:128573023..128610008hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3836986
hg1936986
hg1836986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580794
Samples
Known GenesUGGT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005201
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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