A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015000



Internal ID18757535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96091359..96159625hg38UCSC Ensembl
Innerchr2:96757107..96825363hg19UCSC Ensembl
Innerchr2:96120834..96189090hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3868267
hg1968257
hg1868257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4009n100
Supporting Variantsnssv3579932, nssv3579561, nssv3579560, nssv3579558, nssv3579562, nssv3579557, nssv3579559
Samples
Known GenesADRA2B, ASTL, DUSP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015000
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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