A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270669



Internal ID22269687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17613505..17623844hg38UCSC Ensembl
OuterchrX:17631625..17641964hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3810340
hg1910340
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198941
Supporting Variants
SamplesNA19239
Known GenesNHS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270669
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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