A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456395



Internal ID8483442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92033004..92089711hg38UCSC Ensembl
Innerchr14:92499348..92556055hg19UCSC Ensembl
Innerchr14:91569101..91625808hg18UCSC Ensembl
Innerchr14:91569101..91625808hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3856708
hg1956708
hg1856708
hg1756708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533727
Samples1780862309_A
Known GenesATXN3, TRIP11
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)nsv456395
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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