A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954688



Internal ID17303561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179200682..179216950hg38UCSC Ensembl
Outerchr2:180065409..180081677hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3816269
hg1916269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv104n73
Supporting Variantsnssv3002954
SamplesBILGI_BIOE
Known GenesSESTD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954688
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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