A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465614



Internal ID15525679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22094715..22158340hg38UCSC Ensembl
Innerchr8:21952226..22015853hg19UCSC Ensembl
Innerchr8:22008172..22071798hg18UCSC Ensembl
Innerchr8:22008172..22071798hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3863626
hg1963628
hg1863627
hg1763627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv881n27
Supporting Variantsnssv541393
SamplesHGDP00784
Known GenesFAM160B2, HR, LGI3, NUDT18, REEP4
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)nsv465614
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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