A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003366



Internal ID19189401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34249482..34254083hg38UCSC Ensembl
OuterchrX:34267599..34272200hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154090
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003366
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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