A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192281



Internal ID22342889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7650151..7655150hg38UCSC Ensembl
chr4:7651878..7656877hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6441n152
Supporting Variantsnssv14310847, nssv14310853, nssv14310849, nssv14310850, nssv14310852, nssv14310851, nssv14310845, nssv14310848, nssv14310846
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSORCS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192281
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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