A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538174



Internal ID15157765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70415034..70456677hg38UCSC Ensembl
Innerchr1:70880717..70922360hg19UCSC Ensembl
Innerchr1:70653305..70694948hg18UCSC Ensembl
Innerchr1:70592738..70634381hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3841644
hg1941644
hg1841644
hg1741644
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461828
Supporting Variants
Samples1782681216_A
Known GenesCTH
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)nssv538174
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