A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020378



Internal ID19109597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:26640261..26694253hg38UCSC Ensembl
Innerchr7:26679880..26733872hg19UCSC Ensembl
Innerchr7:26646405..26700397hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3853993
hg1953993
hg1853993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643321
Samples
Known GenesC7orf71, SKAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020378
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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