A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987558



Internal ID18863863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55034767..55037667hg38UCSC Ensembl
OuterchrX:55061200..55064100hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132768
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987558
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