A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195410



Internal ID22345598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:708851..714250hg38UCSC Ensembl
chr7:748488..753887hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8326n152
Supporting Variantsnssv14332976, nssv14332974, nssv14332978, nssv14332971, nssv14332972, nssv14332975, nssv14332977, nssv14332979, nssv14332973
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPRKAR1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195410
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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