A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173349



Internal ID15533369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:172205975..172277987hg38UCSC Ensembl
Innerchr1:172175115..172247127hg19UCSC Ensembl
Innerchr1:170441738..170513750hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3872013
hg1972013
hg1872013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548192
Supporting Variants
SamplesNINDS_147
Known GenesDNM3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173349
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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