A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149814



Internal ID15531606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77334838..77353879hg38UCSC Ensembl
Innerchr17:75330920..75349961hg19UCSC Ensembl
Innerchr17:72842515..72861556hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3819042
hg1919042
hg1819042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576092
Supporting Variants
SamplesHGDP01173
Known GenesSEPT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149814
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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