A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv988546



Internal ID15935816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2261412..2262694hg38UCSC Ensembl
Innerchr4:2263139..2264421hg19UCSC Ensembl
Innerchr4:2232937..2234219hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593390
Supporting Variants
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv988546
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