A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543969



Internal ID15505053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:2598626..2621476hg38UCSC Ensembl
Innerchr2:2602398..2625248hg19UCSC Ensembl
Innerchr2:2581405..2604255hg18UCSC Ensembl
Innerchr2:2572695..2595545hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3822851
hg1922851
hg1822851
hg1722851
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468927
Supporting Variants
SamplesHGDP00031
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)nssv543969
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