A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539967



Internal ID15505000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:92343861..92370241hg38UCSC Ensembl
Innerchr6:93053579..93079959hg19UCSC Ensembl
Innerchr6:93110300..93136680hg18UCSC Ensembl
Innerchr6:93110300..93136680hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3826381
hg1926381
hg1826381
hg1726381
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463957
Supporting Variants
SamplesHGDP00019
Known Genes
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)nssv539967
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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