A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598462



Internal ID16039185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69589843..71340715hg38UCSC Ensembl
Innerchr5:68885670..70636542hg19UCSC Ensembl
Innerchr5:68921426..70672298hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381750873
hg191750873
hg181750873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034699
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, 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)nsv598462
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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