A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461574



Internal ID15174953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86318611..86357943hg38UCSC Ensembl
Innerchr4:87239764..87279096hg19UCSC Ensembl
Innerchr4:87458788..87498120hg18UCSC Ensembl
Innerchr4:87596943..87636275hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3839333
hg1939333
hg1839333
hg1739333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537949
Samples1780854327_A
Known GenesMAPK10
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)nsv461574
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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