A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962997



Internal ID19225152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119457048..119457120hg38UCSC Ensembl
OuterchrX:118591011..118591083hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120592
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962997
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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