A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465987



Internal ID15526052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142323928..142377472hg38UCSC Ensembl
Innerchr8:143405289..143458833hg19UCSC Ensembl
Innerchr8:143403196..143456740hg18UCSC Ensembl
Innerchr8:143403196..143456740hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3853545
hg1953545
hg1853545
hg1753545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541648
SamplesHGDP00774
Known GenesTSNARE1
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)nsv465987
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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