A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537086



Internal ID15160918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52114217..52256534hg38UCSC Ensembl
Innerchr3:52148233..52290550hg19UCSC Ensembl
Innerchr3:52123273..52265590hg18UCSC Ensembl
Innerchr3:52123273..52265590hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38142318
hg19142318
hg18142318
hg17142318
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460537
Supporting Variants
SamplesHGDP00684
Known GenesALAS1, POC1A, PPM1M, TLR9, TWF2, WDR82
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)nssv537086
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