A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542924



Internal ID15161093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:20097752..20718575hg38UCSC Ensembl
Innerchr11:20119298..20740121hg19UCSC Ensembl
Innerchr11:20075874..20696697hg18UCSC Ensembl
Innerchr11:20075874..20696697hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38620824
hg19620824
hg18620824
hg17620824
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467720
Supporting Variants
SamplesHGDP00715
Known GenesDBX1, HTATIP2, NAV2, NELL1, PRMT3, SLC6A5
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)nssv542924
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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