A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543763



Internal ID15509158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242037945..242392647hg38UCSC Ensembl
Innerchr1:242201247..242555949hg19UCSC Ensembl
Innerchr1:240267870..240622572hg18UCSC Ensembl
Innerchr1:238527288..238881990hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38354703
hg19354703
hg18354703
hg17354703
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468672
Supporting Variants
SamplesHGDP00950
Known GenesPLD5
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)nssv543763
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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