A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461657



Internal ID15521722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:136840332..136893149hg38UCSC Ensembl
Innerchr4:137761486..137814303hg19UCSC Ensembl
Innerchr4:137980936..138033753hg18UCSC Ensembl
Innerchr4:138119091..138171908hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3852818
hg1952818
hg1852818
hg1752818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538018
Samples1780862227_A
Known Genes
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)nsv461657
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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