A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146849



Internal ID19195405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1293606..1298607hg38UCSC Ensembl
OuterchrX:1412499..1417500hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg385002
hg195002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998213
SamplesKWB1
Known GenesCSF2RA, MIR3690, MIR3690-2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146849
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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