A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124567



Internal ID19281844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44138828..44141528hg38UCSC Ensembl
Outerchr1:44604500..44607200hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976621
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124567
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