A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538921



Internal ID15512039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31387541..31489801hg38UCSC Ensembl
Innerchr6:31355318..31457578hg19UCSC Ensembl
Innerchr6:31463297..31565557hg18UCSC Ensembl
Innerchr6:31463297..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38102261
hg19102261
hg18102261
hg17102261
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462836
Supporting Variants
SamplesNINDS_191
Known GenesHCG26, HCP5, MICA
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)nssv538921
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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