A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1006243



Internal ID16300199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128060930..128061604hg38UCSC Ensembl
Innerchr4:128982085..128982759hg19UCSC Ensembl
Innerchr4:129201535..129202209hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38675
hg19675
hg18675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595390
Supporting Variants
Samples
Known GenesLARP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1006243
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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