A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540051



Internal ID15507278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154658022..154696818hg38UCSC Ensembl
Innerchr1:154630498..154669294hg19UCSC Ensembl
Innerchr1:152897122..152935918hg18UCSC Ensembl
Innerchr1:151443571..151482367hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3838797
hg1938797
hg1838797
hg1738797
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464062
Supporting Variants
SamplesHGDP00637
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)nssv540051
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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