A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146965



Internal ID18854951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37437702..37438091hg38UCSC Ensembl
Outerchr7:37477305..37477694hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998330
SamplesKWB1
Known GenesELMO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146965
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer