A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221723



Internal ID22366008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:84071558..84085759hg38UCSC Ensembl
OuterchrX:83326566..83340767hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269941, nssv14269942, nssv14269944, nssv14269943, nssv14270270, nssv14270272, nssv14269940, nssv14270271, nssv14270269
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRPS6KA6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221723
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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