A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207386



Internal ID22355780
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 Variantsnssv14435016
SamplesHG00514
Known GenesSORCS2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207386
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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