A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026427



Internal ID19115645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89902753..90245730hg38UCSC Ensembl
Innerchr7:89532067..89875044hg19UCSC Ensembl
Innerchr7:89370003..89712980hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38342978
hg19342978
hg18342978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6529n100
Supporting Variantsnssv3655220
Samples
Known GenesC7orf63, DPY19L2P4, STEAP1, STEAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026427
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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