A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996885



Internal ID18845557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:109647670..109651171hg38UCSC Ensembl
OuterchrX:108890899..108894400hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152281
Supporting Variants
SamplesKWB1
Known GenesACSL4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996885
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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