A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125707



Internal ID18908833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177276364..177276460hg38UCSC Ensembl
Outerchr2:178141092..178141188hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983915
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125707
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