A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595743



Internal ID16383152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:152647942..152677136hg38UCSC Ensembl
Innerchr4:153569094..153598288hg19UCSC Ensembl
Innerchr4:153788544..153817738hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3829195
hg1929195
hg1829195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153180, nssv1153179
SamplesHGDP00135, HGDP00364
Known GenesTMEM154
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595743
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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