A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005247



Internal ID18747778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65389160..65490042hg38UCSC Ensembl
Innerchr1:65854843..65955725hg19UCSC Ensembl
Innerchr1:65627431..65728313hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38100883
hg19100883
hg18100883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv174n100
Supporting Variantsnssv3701246, nssv3701247
Samples
Known GenesDNAJC6, LEPR, LEPROT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005247
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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