A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695585



Internal ID15085551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48921668..48944456hg38UCSC Ensembl
Innerchr19:49424925..49447713hg19UCSC Ensembl
Innerchr19:54116737..54139525hg18UCSC Ensembl
Innerchr19:54116737..54139525hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3822789
hg1922789
hg1822789
hg1722789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518164
Supporting Variants
Samples
Known GenesDHDH, NUCB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695585
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