A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005130



Internal ID19094347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15805324..15827732hg38UCSC Ensembl
Innerchr1:16131819..16154227hg19UCSC Ensembl
Innerchr1:16004406..16026814hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3822409
hg1922409
hg1822409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv36n100
Supporting Variantsnssv3472499
Samples
Known GenesUQCRHL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005130
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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