A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458328



Internal ID15171707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4320221..4386355hg38UCSC Ensembl
Innerchr19:4320218..4386352hg19UCSC Ensembl
Innerchr19:4271218..4337352hg18UCSC Ensembl
Innerchr19:4271218..4337352hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866135
hg1966135
hg1866135
hg1766135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535278
SamplesNINDS_194
Known GenesFSD1, MPND, SH3GL1, STAP2
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)nsv458328
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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