A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534553



Internal ID15156104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46777649..47098834hg38UCSC Ensembl
Innerchr2:47004788..47325973hg19UCSC Ensembl
Innerchr2:46858292..47179477hg18UCSC Ensembl
Innerchr2:46916439..47237624hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38321186
hg19321186
hg18321186
hg17321186
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457352
Supporting Variants
Samples1780854536_A
Known GenesC2orf61, LINC01118, LINC01119, MCFD2, TTC7A
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)nssv534553
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