A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538997



Internal ID15160550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52642807..52843999hg38UCSC Ensembl
Innerchr6:52507605..52708797hg19UCSC Ensembl
Innerchr6:52615564..52816756hg18UCSC Ensembl
Innerchr6:52615564..52816756hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38201193
hg19201193
hg18201193
hg17201193
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462945
Supporting Variants
SamplesHGDP00628
Known GenesGSTA1, GSTA2, GSTA5, GSTA7P, LOC730101, TMEM14A
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)nssv538997
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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