A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3696215



Internal ID18647810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68335100..68498919hg38UCSC Ensembl
Innerchr9:70950016..71113835hg19UCSC Ensembl
Innerchr9:70139836..70303655hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg38163820
hg19163820
hg18163820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015629
Supporting Variants
Samples
Known GenesPGM5, PGM5-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3696215
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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