A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954439



Internal ID17303313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179200874..179218273hg38UCSC Ensembl
Outerchr2:180065601..180083000hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3817400
hg1917400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv104n73
Supporting Variantsnssv3003084
SamplesBILGI_BIOE
Known GenesSESTD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954439
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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