A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000994



Internal ID18743525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127039513..127103254hg38UCSC Ensembl
Innerchr2:127797089..127860830hg19UCSC Ensembl
Innerchr2:127513559..127577300hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3863742
hg1963742
hg1863742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4064n100
Supporting Variantsnssv3580721
Samples
Known GenesBIN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000994
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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