A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598500



Internal ID16039223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69995314..70955874hg38UCSC Ensembl
Innerchr5:69291141..70251701hg19UCSC Ensembl
Innerchr5:69326897..70287457hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38960561
hg19960561
hg18960561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9845n54
Supporting Variantsnssv1034878
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, 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)nsv598500
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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