A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598538



Internal ID16039261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70446718..70473086hg38UCSC Ensembl
Innerchr5:69742545..69768913hg19UCSC Ensembl
Innerchr5:69778301..69804669hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3826369
hg1926369
hg1826369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034920
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598538
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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