A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542923



Internal ID15159493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18426064..18520680hg38UCSC Ensembl
Innerchr11:18447611..18542227hg19UCSC Ensembl
Innerchr11:18404187..18498803hg18UCSC Ensembl
Innerchr11:18404187..18498803hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3894617
hg1994617
hg1894617
hg1794617
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467719
Supporting Variants
SamplesHGDP00423
Known GenesLDHAL6A, LDHC, TSG101
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)nssv542923
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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