A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269830



Internal ID22122276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:144988453..145020358hg38UCSC Ensembl
OuterchrX:144069973..144101878hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3831906
hg1931906
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208051
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269830
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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