A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001370



Internal ID19191054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:64107819..64115320hg38UCSC Ensembl
OuterchrX:63327699..63335200hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg387502
hg197502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153450
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001370
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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