A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598440



Internal ID16039163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69565703hg38UCSC Ensembl
Innerchr5:68834042..68861530hg19UCSC Ensembl
Innerchr5:68869798..68897286hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3827489
hg1927489
hg1827489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9837n54
Supporting Variantsnssv1034676
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598440
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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