A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539284



Internal ID15158603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111891044..111909403hg38UCSC Ensembl
Innerchr1:112433666..112452025hg19UCSC Ensembl
Innerchr1:112235189..112253548hg18UCSC Ensembl
Innerchr1:112145708..112164067hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3818360
hg1918360
hg1818360
hg1718360
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463261
Supporting Variants
SamplesHGDP00094
Known GenesKCND3
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)nssv539284
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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