A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119477



Internal ID19271396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:66762911..66762984hg38UCSC Ensembl
Outerchr2:66990043..66990116hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1928n106
Supporting Variantsnssv3959920
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119477
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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