A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310835



Internal ID22189417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7561513..7561725hg38UCSC Ensembl
chr4:7563240..7563452hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202158
Supporting Variants
SamplesHG00731
Known GenesSORCS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310835
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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