A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950171



Internal ID16952358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70216518..70233517hg38UCSC Ensembl
Outerchr1:70682201..70699200hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3817000
hg1917000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997158
SamplesBILGI_BIOE
Known GenesSRSF11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950171
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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