A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978444



Internal ID18893367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102273301..102292343hg38UCSC Ensembl
OuterchrX:101528300..101547300hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3819043
hg1919001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115881
Supporting Variants
SamplesKWS2
Known GenesNXF2, NXF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978444
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