A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9838n54



Internal ID19002014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69539429..71303173hg38UCSC Ensembl
chr5:68835256..70599000hg19UCSC Ensembl
chr5:68871012..70634756hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381763745
hg191763745
hg181763745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598474, nsv598489, nsv598490, nsv598449, nsv598450, nsv598488
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)dgv9838n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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