A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117911



Internal ID18925068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:74781490..74781718hg38UCSC Ensembl
OuterchrX:74001325..74001553hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988451, nssv3980112
SamplesKWS2, KWS1
Known GenesKIAA2022
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117911
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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