A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463472



Internal ID15176851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145809105hg38UCSC Ensembl
Innerchr1:145625979..145747463hg19UCSC Ensembl
Innerchr1:144337336..144458820hg18UCSC Ensembl
Innerchr1:143115023..143236507hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38121504
hg19121485
hg18121485
hg17121485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n27
Supporting Variantsnssv539492
SamplesNINDS_110
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
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)nsv463472
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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