A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263247



Internal ID22257326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99061431..99107476hg38UCSC Ensembl
Outerchr1:99526987..99573032hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3846046
hg1946046
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204600
Supporting Variants
SamplesNA19238
Known GenesLOC100129620
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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