A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575349



Internal ID16016072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46359128..46704811hg38UCSC Ensembl
Innerchr17:44436494..44782177hg19UCSC Ensembl
Innerchr17:41792236..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38345684
hg19345684
hg18345124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5647n54
Supporting Variantsnssv872760, nssv872759, nssv872754, nssv872748, nssv872749, nssv872752, nssv872758, nssv872751, nssv872761, nssv872753, nssv872756, nssv872762, nssv872755, nssv872757, nssv872750
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575349
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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