A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595413



Internal ID16382822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130041108..130082450hg38UCSC Ensembl
Innerchr4:130962263..131003605hg19UCSC Ensembl
Innerchr4:131181713..131223055hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3841343
hg1941343
hg1841343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9264n54
Supporting Variantsnssv1152950, nssv1006482
SamplesNINDS_183
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595413
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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