A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458781



Internal ID15172160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53674019..53800458hg38UCSC Ensembl
Innerchr19:54177273..54303712hg19UCSC Ensembl
Innerchr19:58869085..58995524hg18UCSC Ensembl
Innerchr19:58869085..58995524hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38126440
hg19126440
hg18126440
hg17126440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535682
SamplesHGDP01238
Known GenesMIR1283-1, MIR1283-2, MIR371A, MIR371B, MIR372, MIR373, MIR498, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, NLRP12
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)nsv458781
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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