A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043227



Internal ID18785758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69485135..69503518hg38UCSC Ensembl
Innerchr9:72100051..72118434hg19UCSC Ensembl
Innerchr9:71289871..71308254hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3818384
hg1918384
hg1818384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7674n100
Supporting Variantsnssv3696328, nssv3696329
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)nsv1043227
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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