A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467379



Internal ID15180758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:74490799..74614146hg38UCSC Ensembl
Innerchr10:76250557..76373904hg19UCSC Ensembl
Innerchr10:75920563..76043910hg18UCSC Ensembl
Innerchr10:75920563..76043910hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38123348
hg19123348
hg18123348
hg17123348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv112n27
Supporting Variantsnssv542692
SamplesNINDS_147
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)nsv467379
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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