A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541946



Internal ID15158867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12714996..12854043hg38UCSC Ensembl
Innerchr1:12774999..12913896hg19UCSC Ensembl
Innerchr1:12697586..12836483hg18UCSC Ensembl
Innerchr1:12709265..12848162hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38139048
hg19138898
hg18138898
hg17138898
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466394
Supporting Variants
SamplesHGDP00153
Known GenesAADACL3, C1orf158, HNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
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)nssv541946
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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