A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256007



Internal ID22268824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36728691..36732950hg38UCSC Ensembl
Outerchr1:37194292..37198551hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg384260
hg194260
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203349
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256007
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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