A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125137



Internal ID19250613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152236728..152240028hg38UCSC Ensembl
OuterchrX:151405200..151408500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977943
SamplesKWS2
Known GenesGABRA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125137
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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