A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960255



Internal ID19216206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42888951..42892851hg38UCSC Ensembl
OuterchrX:42748200..42752100hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110601
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960255
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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