A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012277



Internal ID18754810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237994554..238064519hg38UCSC Ensembl
Innerchr2:238903196..238973160hg19UCSC Ensembl
Innerchr2:238567935..238637899hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3869966
hg1969965
hg1869965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4193n100
Supporting Variantsnssv3586962
Samples
Known GenesSCLY, UBE2F, UBE2F-SCLY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012277
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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