A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003044



Internal ID19188416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:105028217..105035918hg38UCSC Ensembl
OuterchrX:104272899..104280600hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg387702
hg197702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151622
Supporting Variants
SamplesKWB1
Known GenesIL1RAPL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003044
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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