A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538627



Internal ID15156681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88885058..88971430hg38UCSC Ensembl
Innerchr1:89350741..89437113hg19UCSC Ensembl
Innerchr1:89123329..89209701hg18UCSC Ensembl
Innerchr1:89062762..89149134hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3886373
hg1986373
hg1886373
hg1786373
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462472
Supporting Variants
Samples1780862212_A
Known GenesCCBL2, GTF2B
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)nssv538627
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