A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575462



Internal ID16362871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47341773..47469712hg38UCSC Ensembl
Innerchr17:45419139..45547078hg19UCSC Ensembl
Innerchr17:42774138..42902077hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38127940
hg19127940
hg18127940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149764
SamplesHGDP00356
Known GenesEFCAB13, MRPL45P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575462
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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