A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030373



Internal ID18772904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8145331..8488238hg38UCSC Ensembl
Innerchr7:8184961..8527868hg19UCSC Ensembl
Innerchr7:8151486..8494393hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38342908
hg19342908
hg18342908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6253n100
Supporting Variantsnssv3655112
Samples
Known GenesICA1, NXPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030373
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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