A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697079



Internal ID15087045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32448743..32502646hg38UCSC Ensembl
Innerchr17:30775761..30829664hg19UCSC Ensembl
Innerchr17:27799874..27853777hg18UCSC Ensembl
Innerchr17:27799874..27853777hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3853904
hg1953904
hg1853904
hg1753904
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519839
Supporting Variants
Samples
Known GenesCDK5R1, MYO1D, PSMD11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697079
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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