A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533326



Internal ID15502605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:21324131..21392468hg38UCSC Ensembl
Innerchr2:21547003..21615340hg19UCSC Ensembl
Innerchr2:21400508..21468845hg18UCSC Ensembl
Innerchr2:21458655..21526992hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3868338
hg1968338
hg1868338
hg1768338
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455863
Supporting Variants
Samples1780854464_A
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)nssv533326
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