A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011449



Internal ID18753983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53667392..53720644hg38UCSC Ensembl
Innerchr2:53894529..53947781hg19UCSC Ensembl
Innerchr2:53748033..53801285hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3853253
hg1953253
hg1853253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3844n100
Supporting Variantsnssv3730766
Samples
Known GenesASB3, GPR75-ASB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011449
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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