A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075717



Internal ID18970760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9785859..9788360hg38UCSC Ensembl
chrX:9753899..9756400hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767376
SamplesKWP1
Known GenesSHROOM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075717
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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