A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527847



Internal ID22397234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122705707..122705969hg38UCSC Ensembl
chr7:122345761..122346023hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8732n152
Supporting Variantsnssv14337374, nssv14338528, nssv14338530, nssv14338533, nssv14338529, nssv14338532, nssv14337375, nssv14338531, nssv14337373
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCADPS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527847
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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