A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461608



Internal ID15521673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:104103667..104120411hg38UCSC Ensembl
Innerchr4:105024824..105041568hg19UCSC Ensembl
Innerchr4:105244273..105261017hg18UCSC Ensembl
Innerchr4:105382428..105399172hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3816745
hg1916745
hg1816745
hg1716745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537982
Samples1780862074_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)nsv461608
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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