A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598460



Internal ID16039183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69577881..69600630hg38UCSC Ensembl
Innerchr5:68873708..68896457hg19UCSC Ensembl
Innerchr5:68909464..68932213hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3822750
hg1922750
hg1822750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034697
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598460
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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