A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123292



Internal ID19266451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8627005..8627071hg38UCSC Ensembl
Outerchr2:8767135..8767201hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972292
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123292
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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