A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046626



Internal ID18789157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125359313..125470470hg38UCSC Ensembl
Innerchr9:128121592..128232749hg19UCSC Ensembl
Innerchr9:127161413..127272570hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38111158
hg19111158
hg18111158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3695229
Samples
Known GenesGAPVD1, MAPKAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046626
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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