A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366088



Internal ID22257641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61387481..61393283hg38UCSC Ensembl
chr1:61853153..61858955hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg385803
hg195803
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197893
Supporting Variants
SamplesNA19238
Known GenesNFIA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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