A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203679



Internal ID22352651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6937434..6937616hg38UCSC Ensembl
chr1:6997494..6997676hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n152
Supporting Variantsnssv14306147, nssv14306143, nssv14306145, nssv14306148, nssv14306146, nssv14306142, nssv14306144, nssv14306140, nssv14306141
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCAMTA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203679
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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