A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149503



Internal ID15532429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69615239..70107432hg38UCSC Ensembl
Innerchr14:70081956..70574149hg19UCSC Ensembl
Innerchr14:69151709..69643902hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38492194
hg19492194
hg18492194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565007
Supporting Variants
SamplesHGDP01309
Known GenesKIAA0247, LOC100289511, SLC10A1, SLC8A3, SMOC1, SRSF5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149503
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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