A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018281



Internal ID19107498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157200451..157231344hg38UCSC Ensembl
Innerchr7:156993145..157024038hg19UCSC Ensembl
Innerchr7:156685906..156716799hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3830894
hg1930894
hg1830894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6768n100
Supporting Variantsnssv3674707
Samples
Known GenesUBE3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018281
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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