A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050573



Internal ID18793104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69483640..69503518hg38UCSC Ensembl
Innerchr9:72098556..72118434hg19UCSC Ensembl
Innerchr9:71288376..71308254hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3819879
hg1919879
hg1819879
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7672n100
Supporting Variantsnssv3696310, nssv3696311, nssv3696312, nssv3696309
Samples
Known GenesAPBA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050573
Frequency
Sample Size29084
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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