A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999592



Internal ID19189762
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 StatusS
Merged Variantsnsv1146386
Supporting Variants
SamplesKWB1
Known GenesC7orf50
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999592
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