A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115740



Internal ID19276957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43986701..43995501hg38UCSC Ensembl
Outerchr7:44026300..44035100hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg388801
hg198801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977547
SamplesKWS2
Known GenesPOLR2J4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115740
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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