A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141717



Internal ID18926789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153741046..153743546hg38UCSC Ensembl
OuterchrX:153006500..153009000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993223
SamplesKWS2
Known GenesABCD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141717
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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