A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960264



Internal ID19218709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:66182958..66186358hg38UCSC Ensembl
OuterchrX:65402800..65406200hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110609
Supporting Variants
SamplesKWS1
Known GenesHEPH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960264
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