A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461561



Internal ID15174940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54404143..54887697hg38UCSC Ensembl
Innerchr1:54869816..55353370hg19UCSC Ensembl
Innerchr1:54642404..55125958hg18UCSC Ensembl
Innerchr1:54581837..55065391hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38483555
hg19483555
hg18483555
hg17483555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537939
SamplesHGDP00764
Known GenesACOT11, C1orf177, DHCR24, FAM151A, MROH7, MROH7-TTC4, PARS2, SSBP3, TTC22, TTC4
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)nsv461561
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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