A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540007



Internal ID15503736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:103848379..103871334hg38UCSC Ensembl
Innerchr6:104296254..104319209hg19UCSC Ensembl
Innerchr6:104402947..104425902hg18UCSC Ensembl
Innerchr6:104402947..104425902hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3822956
hg1922956
hg1822956
hg1722956
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464004
Supporting Variants
Samples1780862404_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)nssv540007
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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