A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001681



Internal ID17294633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5690269..5697668hg38UCSC Ensembl
Outerchr2:5830401..5837800hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg387400
hg197400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953442
Supporting Variants
SamplesBILGI_BIOE
Known GenesSOX11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001681
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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