A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197916



Internal ID22347729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47409536..47409836hg38UCSC Ensembl
chrX:47268935..47269235hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14351143, nssv14351142, nssv14351144
SamplesNA19240, HG00733, HG00514
Known GenesZNF157
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197916
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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