A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146397



Internal ID19198560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74052101..74054919hg38UCSC Ensembl
Outerchr7:73466431..73469249hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999601
SamplesKWB1
Known GenesELN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146397
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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