A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540519



Internal ID15502180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89914999..90080467hg38UCSC Ensembl
Innerchr7:89544313..89709781hg19UCSC Ensembl
Innerchr7:89382249..89547717hg18UCSC Ensembl
Innerchr7:89188964..89354432hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38165469
hg19165469
hg18165469
hg17165469
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464630
Supporting Variants
Samples1780854206_A
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)nssv540519
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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