A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148703



Internal ID15508085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80933348..80982038hg38UCSC Ensembl
Innerchr14:81399692..81448382hg19UCSC Ensembl
Innerchr14:80469445..80518135hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3848691
hg1948691
hg1848691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565291
Supporting Variants
Samples1780862310_A
Known GenesCEP128, TSHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148703
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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