A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954803



Internal ID16956990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:120343425..120390624hg38UCSC Ensembl
Outerchr2:121101001..121148200hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3847200
hg1947200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001880
SamplesBILGI_BIOE
Known GenesINHBB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954803
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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