A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461855



Internal ID15521920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:182200078..182216459hg38UCSC Ensembl
Innerchr4:183121231..183137612hg19UCSC Ensembl
Innerchr4:183358225..183374606hg18UCSC Ensembl
Innerchr4:183496380..183512761hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3816382
hg1916382
hg1816382
hg1716382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538193
SamplesHGDP00023
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)nsv461855
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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