A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152948



Internal ID15878656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:120701902..120844372hg38UCSC Ensembl
Innerchr4:121623057..121765527hg19UCSC Ensembl
Innerchr4:121842507..121984977hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38142471
hg19142471
hg18142471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595334
Supporting Variants
SamplesHGDP01238
Known GenesPRDM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152948
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer