A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041040



Internal ID18783571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82172783..82314074hg38UCSC Ensembl
Innerchr15:82465124..82606410hg19UCSC Ensembl
Innerchr15:80252179..80393465hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38141292
hg19141287
hg18141287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3718103
Samples
Known GenesADAMTS7P1, EFTUD1, FAM154B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041040
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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