A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269007



Internal ID22254274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19468093..19482879hg38UCSC Ensembl
OuterchrX:19486211..19500997hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38875
hg19875
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223980
Supporting Variants
SamplesNA19238
Known GenesMAP3K15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269007
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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