A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564804



Internal ID22433531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44883774..44883774hg38UCSC Ensembl
chr7:44923373..44923373hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14333514, nssv14333513
SamplesHG00512, HG00514
Known GenesPURB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564804
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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