A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052674



Internal ID18795205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104111970..107043401hg38UCSC Ensembl
Innerchr11:103982698..106914127hg19UCSC Ensembl
Innerchr11:103487908..106419337hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382931432
hg192931430
hg182931430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3515106
Samples
Known GenesAASDHPPT, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, GRIA4, GUCY1A2, KBTBD3, LOC643733, MIR6500, MSANTD4, PDGFD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052674
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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