A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329247



Internal ID22324171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70409646..70409646hg38UCSC Ensembl
chr6:71119349..71119349hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564474
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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