A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543694



Internal ID15161457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:60996360..61044985hg38UCSC Ensembl
Innerchr11:60763832..60812457hg19UCSC Ensembl
Innerchr11:60520408..60569033hg18UCSC Ensembl
Innerchr11:60520408..60569033hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3848626
hg1948626
hg1848626
hg1748626
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468580
Supporting Variants
SamplesHGDP00774
Known GenesCD6
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)nssv543694
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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