A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140018



Internal ID19278077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18105580..18110680hg38UCSC Ensembl
OuterchrX:18123700..18128800hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4214n106
Supporting Variantsnssv3978354
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140018
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