A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540227



Internal ID15505407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4568543..4629505hg38UCSC Ensembl
Innerchr7:4608174..4669136hg19UCSC Ensembl
Innerchr7:4574700..4635662hg18UCSC Ensembl
Innerchr7:4381415..4442377hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3860963
hg1960963
hg1860963
hg1760963
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464288
Supporting Variants
SamplesHGDP00127
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)nssv540227
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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