A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048073



Internal ID18790604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69485135..69501890hg38UCSC Ensembl
Innerchr9:72100051..72116806hg19UCSC Ensembl
Innerchr9:71289871..71306626hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3816756
hg1916756
hg1816756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7674n100
Supporting Variantsnssv3696326, nssv3696327
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)nsv1048073
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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