A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593625



Internal ID16034348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8083447..8118210hg38UCSC Ensembl
Innerchr4:8085174..8119937hg19UCSC Ensembl
Innerchr4:8136074..8170837hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3834764
hg1934764
hg1834764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152624
SamplesNINDS_50
Known GenesABLIM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593625
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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