A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959995



Internal ID19216738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:91562196..91698274hg38UCSC Ensembl
Outerchr2:91741500..91886300hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38136079
hg19144801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110345
Supporting Variants
SamplesKWS1
Known GenesLOC654342
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959995
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