A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312657



Internal ID22204992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:64989893..64989893hg38UCSC Ensembl
chr4:65855611..65855611hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563791
Supporting Variants
SamplesHG00732
Known GenesLOC401134
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312657
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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