A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540397



Internal ID15505755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54238987..54344915hg38UCSC Ensembl
Innerchr7:54306680..54412608hg19UCSC Ensembl
Innerchr7:54274174..54380102hg18UCSC Ensembl
Innerchr7:54080889..54186817hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38105929
hg19105929
hg18105929
hg17105929
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464482
Supporting Variants
SamplesHGDP00210
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)nssv540397
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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