A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012645



Internal ID18755177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174704308..174757118hg38UCSC Ensembl
Innerchr2:175569036..175621846hg19UCSC Ensembl
Innerchr2:175277282..175330092hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3852811
hg1952811
hg1852811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583037
Samples
Known GenesCHRNA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012645
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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