A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456321



Internal ID15516386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62095928..62119235hg38UCSC Ensembl
Innerchr14:62562646..62585953hg19UCSC Ensembl
Innerchr14:61632399..61655706hg18UCSC Ensembl
Innerchr14:61632399..61655706hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3823308
hg1923308
hg1823308
hg1723308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533663
SamplesHGDP01418
Known GenesLINC00643, SYT16
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)nsv456321
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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