A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978473



Internal ID19239251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:149336070..149339770hg38UCSC Ensembl
OuterchrX:148417600..148421300hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115911
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978473
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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