A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467378



Internal ID15180757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:74487347..74612279hg38UCSC Ensembl
Innerchr10:76247105..76372037hg19UCSC Ensembl
Innerchr10:75917111..76042043hg18UCSC Ensembl
Innerchr10:75917111..76042043hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38124933
hg19124933
hg18124933
hg17124933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv112n27
Supporting Variantsnssv542691
SamplesNINDS_145
Known GenesADK
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)nsv467378
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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