A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000913



Internal ID16947179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232867891..232898190hg38UCSC Ensembl
Outerchr2:233732601..233762900hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3830300
hg1930300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953203
Supporting Variants
SamplesBILGI_BIOE
Known GenesC2orf82, NGEF
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000913
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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