A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993163



Internal ID19229426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1447207..1450307hg38UCSC Ensembl
OuterchrX:1566100..1569200hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141658
Supporting Variants
SamplesKWS2
Known GenesASMTL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993163
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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