A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146386



Internal ID19202776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1111968..1114558hg38UCSC Ensembl
Outerchr7:1151604..1154194hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382591
hg192591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999592
SamplesKWB1
Known GenesC7orf50
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146386
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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