A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461530



Internal ID15521595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:64641975..64669752hg38UCSC Ensembl
Innerchr4:65507693..65535470hg19UCSC Ensembl
Innerchr4:65190288..65218065hg18UCSC Ensembl
Innerchr4:65336459..65364236hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3827778
hg1927778
hg1827778
hg1727778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537913
Samples1780854495_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)nsv461530
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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