A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372982



Internal ID22262690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91292308..91301041hg38UCSC Ensembl
chr1:91757865..91766598hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg388734
hg198734
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194154
Supporting Variants
SamplesNA19238
Known GenesHFM1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372982
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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