A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540201



Internal ID15506150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2880433..2897816hg38UCSC Ensembl
Innerchr7:2920067..2937450hg19UCSC Ensembl
Innerchr7:2886593..2903976hg18UCSC Ensembl
Innerchr7:2693308..2710691hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3817384
hg1917384
hg1817384
hg1717384
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464259
Supporting Variants
SamplesHGDP00407
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)nssv540201
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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