A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277156



Internal ID22198769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1925610..1939427hg38UCSC Ensembl
Outerchr6:1925844..1939661hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38925
hg19925
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217036
Supporting Variants
SamplesHG00732
Known GenesGMDS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277156
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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