A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987571



Internal ID19217220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:110817872..110822272hg38UCSC Ensembl
OuterchrX:110061100..110065500hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg384401
hg194401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132780
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987571
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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