A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538967



Internal ID15165983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35489619..35534425hg38UCSC Ensembl
Innerchr6:35457396..35502202hg19UCSC Ensembl
Innerchr6:35565374..35610180hg18UCSC Ensembl
Innerchr6:35565374..35610180hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3844807
hg1944807
hg1844807
hg1744807
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462909
Supporting Variants
SamplesNINDS_49
Known GenesTEAD3, TULP1
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)nssv538967
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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