A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537949



Internal ID15155681
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461574
Supporting Variants
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)nssv537949
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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