A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998423



Internal ID19187941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50060342..50066345hg38UCSC Ensembl
OuterchrX:49824999..49831000hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg386004
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147061
Supporting Variants
SamplesKWB1
Known GenesCLCN5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998423
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