A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950517



Internal ID17299391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:94041445..94046344hg38UCSC Ensembl
Outerchr1:94507001..94511900hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997177
SamplesBILGI_BIOE
Known GenesABCA4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950517
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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