A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000655



Internal ID17293607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14522280..14550479hg38UCSC Ensembl
Outerchr21:15894601..15922800hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3828200
hg1928200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953341
Supporting Variants
SamplesBILGI_BIOE
Known GenesSAMSN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000655
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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