A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598497



Internal ID16039220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69983513..70975678hg38UCSC Ensembl
Innerchr5:69279340..70271505hg19UCSC Ensembl
Innerchr5:69315096..70307261hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38992166
hg19992166
hg18992166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9845n54
Supporting Variantsnssv1034873, nssv1034875, nssv1034874
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598497
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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