A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598456



Internal ID16039179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69554768..69610894hg38UCSC Ensembl
Innerchr5:68850595..68906721hg19UCSC Ensembl
Innerchr5:68886351..68942477hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3856127
hg1956127
hg1856127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034693
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598456
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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