A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997855



Internal ID18810705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127048848..127100370hg38UCSC Ensembl
Innerchr2:127806424..127857946hg19UCSC Ensembl
Innerchr2:127522894..127574416hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3851523
hg1951523
hg1851523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4064n100
Supporting Variantsnssv3580739
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)nsv997855
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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