A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137182



Internal ID18915917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:502292..502362hg38UCSC Ensembl
Outerchr7:541929..541999hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975874
SamplesKWS2
Known GenesPDGFA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137182
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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