A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467389



Internal ID15180768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79376259..79418622hg38UCSC Ensembl
Innerchr10:81136015..81178378hg19UCSC Ensembl
Innerchr10:80806021..80848384hg18UCSC Ensembl
Innerchr10:80806021..80848384hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3842364
hg1942364
hg1842364
hg1742364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542697
SamplesNINDS_49
Known GenesZCCHC24
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)nsv467389
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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