A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950911



Internal ID17299785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149076899..149189572hg38UCSC Ensembl
Outerchr1:144507501..144622300hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38112674
hg19114800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997251
SamplesBILGI_BIOE
Known GenesLOC100288142, LOC728875, NBPF8, NBPF9, PFN1P2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950911
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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