A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205632



Internal ID22354299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55558193..55685445hg38UCSC Ensembl
OuterchrX:55584626..55711878hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38127253
hg19127253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268961
SamplesHG00732
Known GenesFOXR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205632
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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