A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9844n54



Internal ID19002020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69958474..70484429hg38UCSC Ensembl
chr5:69254301..69780256hg19UCSC Ensembl
chr5:69290057..69816012hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38525956
hg19525956
hg18525956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598484, nsv598483
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, 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)dgv9844n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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