A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191947



Internal ID22342592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:127555309..127573169hg38UCSC Ensembl
OuterchrX:126689290..126707150hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3817861
hg1917861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269824
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191947
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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