A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575331



Internal ID16016054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46355489..46704811hg38UCSC Ensembl
Innerchr17:44432855..44782177hg19UCSC Ensembl
Innerchr17:41788595..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38349323
hg19349323
hg18348765
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5648n54
Supporting Variantsnssv872697, nssv872691, nssv872692, nssv872695, nssv872694, nssv872696, nssv872693
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)nsv575331
Frequency
Sample Size17421
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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