A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269097



Internal ID22204338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48669710..48684172hg38UCSC Ensembl
OuterchrX:48528099..48542561hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212480
Supporting Variants
SamplesHG00732
Known GenesWAS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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