A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058272



Internal ID19147491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66511442..66596459hg38UCSC Ensembl
Innerchr17:64507560..64592577hg19UCSC Ensembl
Innerchr17:61938022..62023039hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3885018
hg1985018
hg1885018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3275n100
Supporting Variantsnssv3567736
Samples
Known GenesPRKCA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058272
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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