A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536955



Internal ID15512237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:5363219..5401171hg38UCSC Ensembl
Innerchr3:5404904..5442857hg19UCSC Ensembl
Innerchr3:5379904..5417857hg18UCSC Ensembl
Innerchr3:5379904..5417857hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3837953
hg1937954
hg1837954
hg1737954
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460363
Supporting Variants
SamplesNINDS_22
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)nssv536955
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