A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195967



Internal ID22346063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7230623..7230688hg38UCSC Ensembl
chr4:7232350..7232415hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310775, nssv14310778, nssv14310777, nssv14310776
SamplesHG00732, HG00733, HG00513, HG00514
Known GenesSORCS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195967
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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