A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460617



Internal ID15173996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4690970..4727059hg38UCSC Ensembl
Innerchr1:4751030..4787119hg19UCSC Ensembl
Innerchr1:4650890..4686979hg18UCSC Ensembl
Innerchr1:4661403..4697492hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3836090
hg1936090
hg1836090
hg1736090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537158
SamplesNINDS_66
Known GenesAJAP1
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)nsv460617
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