A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593626



Internal ID16034349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8152807..8274684hg38UCSC Ensembl
Innerchr4:8154534..8276411hg19UCSC Ensembl
Innerchr4:8205434..8327311hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38121878
hg19121878
hg18121878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152625
SamplesNINDS_111
Known GenesABLIM2, HTRA3, SH3TC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593626
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