A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540291



Internal ID15509606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10121323..10182376hg38UCSC Ensembl
Innerchr7:10160950..10222003hg19UCSC Ensembl
Innerchr7:10127475..10188528hg18UCSC Ensembl
Innerchr7:9934190..9995243hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3861054
hg1961054
hg1861054
hg1761054
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464362
Supporting Variants
SamplesHGDP01044
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)nssv540291
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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