A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002910



Internal ID19192177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:69036056..69038257hg38UCSC Ensembl
OuterchrX:68255899..68258100hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151485
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002910
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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