A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140051



Internal ID19278454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102777572..102786972hg38UCSC Ensembl
OuterchrX:102032500..102041900hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg389401
hg199401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978387
SamplesKWS2
Known GenesLINC00630
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140051
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