A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194700



Internal ID22344982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139166249..139195080hg38UCSC Ensembl
OuterchrX:138248411..138277242hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3828832
hg1928832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269462
SamplesHG00732
Known GenesFGF13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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