A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463128



Internal ID15523193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109142651..109177763hg38UCSC Ensembl
Innerchr1:109685273..109720385hg19UCSC Ensembl
Innerchr1:109486796..109521908hg18UCSC Ensembl
Innerchr1:109397315..109432427hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3835113
hg1935113
hg1835113
hg1735113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539158
SamplesHGDP00899
Known GenesKIAA1324
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)nsv463128
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