A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135267



Internal ID19284608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71639155..71639502hg38UCSC Ensembl
Outerchr8:72551390..72551737hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3839n106
Supporting Variantsnssv3988824
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135267
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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