A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996839



Internal ID19192398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:36467616..36471117hg38UCSC Ensembl
OuterchrX:36485699..36489200hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152234
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996839
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer