A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461203



Internal ID15174582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7422024..7432880hg38UCSC Ensembl
Innerchr4:7423751..7434607hg19UCSC Ensembl
Innerchr4:7474652..7485508hg18UCSC Ensembl
Innerchr4:7541823..7552679hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3810857
hg1910857
hg1810857
hg1710857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537621
SamplesHGDP00491
Known GenesPSAPL1, SORCS2
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)nsv461203
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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