A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011224



Internal ID18753758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127044799..127103254hg38UCSC Ensembl
Innerchr2:127802375..127860830hg19UCSC Ensembl
Innerchr2:127518845..127577300hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3858456
hg1958456
hg1858456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4064n100
Supporting Variantsnssv3580727, nssv3580728
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)nsv1011224
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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