A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464404



Internal ID15524469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:20227147..20260793hg38UCSC Ensembl
Innerchr7:20266770..20300416hg19UCSC Ensembl
Innerchr7:20233295..20266941hg18UCSC Ensembl
Innerchr7:20040010..20073656hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3833647
hg1933647
hg1833647
hg1733647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540324
SamplesHGDP00664
Known Genes
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)nsv464404
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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