A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136303



Internal ID18938435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:104855142..104858642hg38UCSC Ensembl
Outerchr2:105471600..105475100hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989921
SamplesKWS2
Known GenesPOU3F3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136303
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer