A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537984



Internal ID15156661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:105544971..105570354hg38UCSC Ensembl
Innerchr4:106466128..106491511hg19UCSC Ensembl
Innerchr4:106685577..106710960hg18UCSC Ensembl
Innerchr4:106823732..106849115hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3825384
hg1925384
hg1825384
hg1725384
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461610
Supporting Variants
Samples1780862202_A
Known GenesARHGEF38, ARHGEF38-IT1
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)nssv537984
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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