A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538147



Internal ID15156250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70010111..70085656hg38UCSC Ensembl
Innerchr1:70475794..70551339hg19UCSC Ensembl
Innerchr1:70248382..70323927hg18UCSC Ensembl
Innerchr1:70187815..70263360hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3875546
hg1975546
hg1875546
hg1775546
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461795
Supporting Variants
Samples1780862003_A
Known GenesLRRC7
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)nssv538147
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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