A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461610



Internal ID15174989
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537984
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)nsv461610
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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