A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064970



Internal ID18807501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66414666..66490150hg38UCSC Ensembl
Innerchr17:64410784..64486268hg19UCSC Ensembl
Innerchr17:61841246..61916730hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3875485
hg1975485
hg1875485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567733, nssv3567731, nssv3567732, nssv3725142
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)nsv1064970
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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