A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461428



Internal ID15174807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47021913..47058592hg38UCSC Ensembl
Innerchr1:47487585..47524264hg19UCSC Ensembl
Innerchr1:47260172..47296851hg18UCSC Ensembl
Innerchr1:47199605..47236284hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3836680
hg1936680
hg1836680
hg1736680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537815
SamplesHGDP00674
Known GenesCYP4X1
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)nsv461428
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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