A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998109



Internal ID18844833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53049217..53058718hg38UCSC Ensembl
OuterchrX:53078399..53087900hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg389502
hg199502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153074
Supporting Variants
SamplesKWB1
Known GenesGPR173
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998109
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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