A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130225



Internal ID19259131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:62550865..62553965hg38UCSC Ensembl
Outerchr2:62778000..62781100hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925n106
Supporting Variantsnssv3966136
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130225
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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