A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203124



Internal ID22352188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72153911..72158037hg38UCSC Ensembl
OuterchrX:71373761..71377887hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg384127
hg194127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269796
SamplesHG00512
Known GenesFLJ44635
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203124
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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