A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461795



Internal ID15175174
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18n27
Supporting Variantsnssv538147
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)nsv461795
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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