A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199017



Internal ID22348665
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14369829
SamplesHG00731
Known GenesNFIA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199017
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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