A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598444



Internal ID16039167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69539339..69561058hg38UCSC Ensembl
Innerchr5:68835166..68856885hg19UCSC Ensembl
Innerchr5:68870922..68892641hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3821720
hg1921720
hg1821720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9837n54
Supporting Variantsnssv1034680, nssv1034681
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)nsv598444
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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