A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147800



Internal ID19199839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:300532..310733hg38UCSC Ensembl
OuterchrX:217199..227400hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3810202
hg1910202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996589
SamplesKWB1
Known GenesGTPBP6, PLCXD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147800
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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