A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541468



Internal ID15501893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:73260207..73270322hg38UCSC Ensembl
Innerchr8:74172442..74182557hg19UCSC Ensembl
Innerchr8:74334996..74345111hg18UCSC Ensembl
Innerchr8:74334996..74345111hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3810116
hg1910116
hg1810116
hg1710116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465717
Supporting Variants
Samples1780846005_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)nssv541468
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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