A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537890



Internal ID15506491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53687030..53723995hg38UCSC Ensembl
Innerchr1:54152703..54189668hg19UCSC Ensembl
Innerchr1:53925291..53962256hg18UCSC Ensembl
Innerchr1:53864724..53901689hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3836966
hg1936966
hg1836966
hg1736966
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461506
Supporting Variants
SamplesHGDP00515
Known GenesGLIS1
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)nssv537890
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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