A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537968



Internal ID15163192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54593622..54757517hg38UCSC Ensembl
Innerchr1:55059295..55223190hg19UCSC Ensembl
Innerchr1:54831883..54995778hg18UCSC Ensembl
Innerchr1:54771316..54935211hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38163896
hg19163896
hg18163896
hg17163896
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461594
Supporting Variants
SamplesHGDP01101
Known GenesACOT11, FAM151A, MROH7, MROH7-TTC4, PARS2, TTC4
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)nssv537968
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer