A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193402



Internal ID22343853
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14318197, nssv14318202, nssv14318198, nssv14318195, nssv14318201, nssv14318194, nssv14318196, nssv14318199, nssv14318200
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGAP10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193402
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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