A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598439



Internal ID16039162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69561058hg38UCSC Ensembl
Innerchr5:68834042..68856885hg19UCSC Ensembl
Innerchr5:68869798..68892641hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3822844
hg1922844
hg1822844
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034674, nssv1034675
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)nsv598439
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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