A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598962



Internal ID16039685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96722187..97557460hg38UCSC Ensembl
Innerchr5:96057891..96893164hg19UCSC Ensembl
Innerchr5:96083647..96918920hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38835274
hg19835274
hg18835274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1038111
Samples
Known GenesCAST, ERAP1, ERAP2, LIX1, LNPEP, LOC102546227, RIOK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598962
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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