A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv718755



Internal ID15666025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88320368..88696449hg38UCSC Ensembl
Innerchr1:88786051..89162132hg19UCSC Ensembl
Innerchr1:88558639..88934720hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38376082
hg19376082
hg18376082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546773
Supporting Variants
Samples
Known GenesPKN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv718755
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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