A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362430



Internal ID22144068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40731433..40731742hg38UCSC Ensembl
chr1:41197105..41197414hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210132
Supporting Variants
SamplesHG00514
Known GenesNFYC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362430
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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