A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318202



Internal ID22293231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148061544..148062810hg38UCSC Ensembl
chr4:148982695..148983961hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193402
Supporting Variants
SamplesNA19240
Known GenesARHGAP10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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