A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953518



Internal ID16955705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173922873..173963172hg38UCSC Ensembl
Outerchr2:174787601..174827900hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3840300
hg1940300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003071
SamplesBILGI_BIOE
Known GenesSP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953518
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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