A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872338



Internal ID15819608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45846971..45850758hg38UCSC Ensembl
Innerchr17:43924337..43928124hg19UCSC Ensembl
Innerchr17:41280117..41283904hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383788
hg193788
hg183788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575141
Supporting Variants
Samples
Known GenesMAPT-AS1, SPPL2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872338
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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