A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464669



Internal ID15178048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105863755..105893289hg38UCSC Ensembl
Innerchr7:105504201..105533735hg19UCSC Ensembl
Innerchr7:105291437..105320971hg18UCSC Ensembl
Innerchr7:105098152..105127686hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3829535
hg1929535
hg1829535
hg1729535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540545
Samples1798860102_A
Known GenesATXN7L1
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)nsv464669
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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