A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598450



Internal ID16039173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69539429..71119977hg38UCSC Ensembl
Innerchr5:68835256..70415804hg19UCSC Ensembl
Innerchr5:68871012..70451560hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381580549
hg191580549
hg181580549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9838n54
Supporting Variantsnssv1034687
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598450
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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