A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575076



Internal ID16362485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44218610..44221613hg38UCSC Ensembl
Innerchr17:42295978..42298981hg19UCSC Ensembl
Innerchr17:39651504..39654507hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383004
hg193004
hg183004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5604n54
Supporting Variantsnssv872198
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575076
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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