A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461858



Internal ID15521923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:182958881..183011532hg38UCSC Ensembl
Innerchr4:183880034..183932685hg19UCSC Ensembl
Innerchr4:184117028..184169679hg18UCSC Ensembl
Innerchr4:184255183..184307834hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3852652
hg1952652
hg1852652
hg1752652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538196
Samples1780854537_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)nsv461858
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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