A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465700



Internal ID15525765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62303056..62310322hg38UCSC Ensembl
Innerchr8:63215615..63222881hg19UCSC Ensembl
Innerchr8:63378169..63385435hg18UCSC Ensembl
Innerchr8:63378169..63385435hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg387267
hg197267
hg187267
hg177267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv891n27
Supporting Variantsnssv541453
SamplesHGDP01286
Known GenesNKAIN3
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)nsv465700
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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