A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533749



Internal ID15503082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99885488..99939420hg38UCSC Ensembl
Innerchr14:100351825..100405757hg19UCSC Ensembl
Innerchr14:99421578..99475510hg18UCSC Ensembl
Innerchr14:99421578..99475510hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3853933
hg1953933
hg1853933
hg1753933
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456426
Supporting Variants
Samples1780862077_A
Known GenesEML1
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)nssv533749
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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