A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369829



Internal ID22192357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61138660..61139136hg38UCSC Ensembl
chr1:61604332..61604808hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199017
Supporting Variants
SamplesHG00731
Known GenesNFIA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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