A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537985



Internal ID15157657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:107897601..107966289hg38UCSC Ensembl
Innerchr4:108818757..108887445hg19UCSC Ensembl
Innerchr4:109038206..109106894hg18UCSC Ensembl
Innerchr4:109176361..109245049hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3868689
hg1968689
hg1868689
hg1768689
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461611
Supporting Variants
Samples1782681102_A
Known GenesCYP2U1, SGMS2
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)nssv537985
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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