A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540002



Internal ID15502716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:102604238..102688773hg38UCSC Ensembl
Innerchr6:103052113..103136648hg19UCSC Ensembl
Innerchr6:103158806..103243341hg18UCSC Ensembl
Innerchr6:103158806..103243341hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3884536
hg1984536
hg1884536
hg1784536
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463999
Supporting Variants
Samples1780854495_A
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)nssv540002
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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