A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462716



Internal ID15522781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102711036..102794168hg38UCSC Ensembl
Innerchr1:103176592..103259724hg19UCSC Ensembl
Innerchr1:102949180..103032312hg18UCSC Ensembl
Innerchr1:102888613..102971745hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3883133
hg1983133
hg1883133
hg1783133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538812
SamplesHGDP01347
Known Genes
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)nsv462716
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer