A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998019



Internal ID19188726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1404706..1407607hg38UCSC Ensembl
OuterchrX:1523599..1526500hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152984
Supporting Variants
SamplesKWB1
Known GenesASMTL, ASMTL-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998019
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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