A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694900



Internal ID15084866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68542098..68552316hg38UCSC Ensembl
Innerchr17:66538239..66548457hg19UCSC Ensembl
Innerchr17:64049834..64060052hg18UCSC Ensembl
Innerchr17:64049834..64060052hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3810219
hg1910219
hg1810219
hg1710219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522126
Supporting Variants
Samples
Known GenesFAM20A, PRKAR1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694900
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