A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696806



Internal ID15433458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57458090..57514042hg38UCSC Ensembl
Innerchr3:57443817..57499769hg19UCSC Ensembl
Innerchr3:57418857..57474809hg18UCSC Ensembl
Innerchr3:57418857..57474809hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3855953
hg1955953
hg1855953
hg1755953
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519351
Supporting Variants
Samples
Known GenesDNAH12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696806
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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