A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1001998



Internal ID16295954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68539099..68587178hg38UCSC Ensembl
Innerchr4:69404817..69452896hg19UCSC Ensembl
Innerchr4:69087412..69135491hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3848080
hg1948080
hg1848080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594542
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1001998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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