A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467440



Internal ID15527505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:97375027..97445034hg38UCSC Ensembl
Innerchr10:99134784..99204791hg19UCSC Ensembl
Innerchr10:99124774..99194781hg18UCSC Ensembl
Innerchr10:99124774..99194781hg17UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3870008
hg1970008
hg1870008
hg1770008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542733
SamplesNINDS_22
Known GenesEXOSC1, PGAM1, RRP12
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)nsv467440
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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