A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197675



Internal ID22347521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:42473387..42475078hg38UCSC Ensembl
chrX:42332639..42334330hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381692
hg191692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10096n152
Supporting Variantsnssv14350380, nssv14350382, nssv14350378, nssv14350381, nssv14350379
SamplesHG00512, NA19238, NA19239, HG00731, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197675
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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