A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458810



Internal ID15172189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790359..54866553hg38UCSC Ensembl
Innerchr19:55301811..55378008hg19UCSC Ensembl
Innerchr19:59993623..60069820hg18UCSC Ensembl
Innerchr19:59993623..60069820hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3876195
hg1976198
hg1876198
hg1776198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535708
SamplesNINDS_159
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
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)nsv458810
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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