A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533676



Internal ID15164166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69615239..70107432hg38UCSC Ensembl
Innerchr14:70081956..70574149hg19UCSC Ensembl
Innerchr14:69151709..69643902hg18UCSC Ensembl
Innerchr14:69151709..69643902hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38492194
hg19492194
hg18492194
hg17492194
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456336
Supporting Variants
SamplesHGDP01309
Known GenesKIAA0247, LOC100289511, SLC10A1, SLC8A3, SMOC1, SRSF5
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv533676
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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