A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538756



Internal ID15502363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:21296172..21322552hg38UCSC Ensembl
Innerchr6:21296403..21322783hg19UCSC Ensembl
Innerchr6:21404382..21430762hg18UCSC Ensembl
Innerchr6:21404382..21430762hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3826381
hg1926381
hg1826381
hg1726381
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462654
Supporting Variants
Samples1780854326_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)nssv538756
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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