A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030604



Internal ID18773135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101074451..101580185hg38UCSC Ensembl
Innerchr7:100717732..101223465hg19UCSC Ensembl
Innerchr7:100504452..101010185hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38505735
hg19505734
hg18505734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3755450
Samples
Known GenesAP1S1, CLDN15, COL26A1, FIS1, LINC01007, MIR4653, MOGAT3, NAT16, PLOD3, RABL5, SERPINE1, TRIM56, VGF, ZNHIT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030604
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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