A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002974



Internal ID18842967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139525640..139531041hg38UCSC Ensembl
OuterchrX:138607799..138613200hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151548
Supporting Variants
SamplesKWB1
Known GenesF9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002974
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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