A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10172n54



Internal ID22778067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172616312..172652886hg38UCSC Ensembl
chr5:172043315..172079889hg19UCSC Ensembl
chr5:171975920..172012494hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3836575
hg1936575
hg1836575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600286, nsv600285
SamplesHGDP01154, 1780862094_A
Known GenesNEURL1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10172n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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