A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978390



Internal ID19233132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:104672219..104678019hg38UCSC Ensembl
OuterchrX:103916900..103922700hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140054
Supporting Variants
SamplesKWS2
Known GenesIL1RAPL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978390
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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