A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954251



Internal ID16956438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233065552..233065639hg38UCSC Ensembl
Outerchr2:233930262..233930349hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004023
SamplesBILGI_BIOE
Known GenesINPP5D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954251
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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