A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021263



Internal ID18763797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96060753..97448132hg38UCSC Ensembl
Innerchr5:95396457..96783836hg19UCSC Ensembl
Innerchr5:95422213..96809592hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381387380
hg191387380
hg181387380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3747342
Samples
Known GenesCAST, ERAP1, ERAP2, LIX1, LNPEP, MIR583, PCSK1, RIOK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021263
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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