A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950948



Internal ID16953135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145977587..146000259hg38UCSC Ensembl
Outerchr1:145434801..145457500hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3822673
hg1922700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997260
SamplesBILGI_BIOE
Known GenesLOC100288142, NBPF10, POLR3GL, TXNIP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950948
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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