A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149675



Internal ID15507060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3601921..3652130hg38UCSC Ensembl
Innerchr17:3505215..3555424hg19UCSC Ensembl
Innerchr17:3451964..3502173hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3850210
hg1950210
hg1850210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574240
Supporting Variants
Samples1780854416_A
Known GenesCTNS, SHPK, TRPV1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149675
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