A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460842



Internal ID15174221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126614957..126669032hg38UCSC Ensembl
Innerchr3:126333800..126387875hg19UCSC Ensembl
Innerchr3:127816490..127870565hg18UCSC Ensembl
Innerchr3:127816498..127870573hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3854076
hg1954076
hg1854076
hg1754076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537342
SamplesNINDS_4
Known GenesNUP210P1, TXNRD3
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)nsv460842
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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