A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268961



Internal ID22202327
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205632
Supporting Variants
SamplesHG00732
Known GenesFOXR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268961
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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