A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464286



Internal ID15524351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4396170..4568543hg38UCSC Ensembl
Innerchr7:4435801..4608174hg19UCSC Ensembl
Innerchr7:4402327..4574700hg18UCSC Ensembl
Innerchr7:4209042..4381415hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38172374
hg19172374
hg18172374
hg17172374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540225
SamplesHGDP00678
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)nsv464286
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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