A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000677



Internal ID16946943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39183875..39212074hg38UCSC Ensembl
Outerchr21:40555801..40584000hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3828200
hg1928200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953626
Supporting Variants
SamplesBILGI_BIOE
Known GenesBRWD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000677
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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