A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598620



Internal ID16039343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71046502..71093137hg38UCSC Ensembl
Innerchr5:70342329..70388964hg19UCSC Ensembl
Innerchr5:70378085..70424720hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3846636
hg1946636
hg1846636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035049
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598620
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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