A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997840



Internal ID19190934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:144083393..144147894hg38UCSC Ensembl
OuterchrX:143166499..143231000hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3864502
hg1964502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152804
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997840
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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