A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1039608



Internal ID15546108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100133300..100727335hg38UCSC Ensembl
Innerchr5:99469004..100063039hg19UCSC Ensembl
Innerchr5:99496903..100090938hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38594036
hg19594036
hg18594036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599165
Supporting Variants
Samples
Known GenesFAM174A, LOC100133050
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1039608
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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