A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461338



Internal ID15174717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39808834..39856900hg38UCSC Ensembl
Innerchr4:39810454..39858520hg19UCSC Ensembl
Innerchr4:39486849..39534915hg18UCSC Ensembl
Innerchr4:39633020..39681086hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3848067
hg1948067
hg1848067
hg1748067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537737
SamplesHGDP00110
Known GenesPDS5A
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)nsv461338
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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