A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463494



Internal ID15176873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145687602..145777371hg38UCSC Ensembl
Innerchr1:145657708..145747463hg19UCSC Ensembl
Innerchr1:144369065..144458820hg18UCSC Ensembl
Innerchr1:143146752..143236507hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3889770
hg1989756
hg1889756
hg1789756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539514
SamplesHGDP01406
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)nsv463494
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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