A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130149



Internal ID18939874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23549716..23550350hg38UCSC Ensembl
Outerchr8:23407229..23407863hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3794n106
Supporting Variantsnssv3966058
SamplesKWS2
Known GenesSLC25A37
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130149
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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