A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461584



Internal ID15521649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91359782..91423069hg38UCSC Ensembl
Innerchr4:92280933..92344220hg19UCSC Ensembl
Innerchr4:92499956..92563243hg18UCSC Ensembl
Innerchr4:92638111..92701398hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3863288
hg1963288
hg1863288
hg1763288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537959
SamplesNINDS_184
Known GenesCCSER1
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)nsv461584
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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