A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540154



Internal ID15507794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:169098207..169116101hg38UCSC Ensembl
Innerchr6:169498302..169516196hg19UCSC Ensembl
Innerchr6:169240227..169258121hg18UCSC Ensembl
Innerchr6:169315934..169333828hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3817895
hg1917895
hg1817895
hg1717895
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464209
Supporting Variants
SamplesHGDP00717
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)nssv540154
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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