A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003972



Internal ID19192999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:138778937..138785638hg38UCSC Ensembl
OuterchrX:137861099..137867800hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg386702
hg196702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151407
Supporting Variants
SamplesKWB1
Known GenesFGF13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003972
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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