A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128167



Internal ID19258186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61980960..61981025hg38UCSC Ensembl
Outerchr5:61276787..61276852hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957645
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128167
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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