A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598442



Internal ID16039165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69613796hg38UCSC Ensembl
Innerchr5:68834042..68909623hg19UCSC Ensembl
Innerchr5:68869798..68945379hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3875582
hg1975582
hg1875582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9834n54
Supporting Variantsnssv1034678
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)nsv598442
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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