A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600206



Internal ID18551801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39375828..39418271hg38UCSC Ensembl
Innerchr21:40747754..40790197hg19UCSC Ensembl
Innerchr21:39669624..39712067hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3842444
hg1942444
hg1842444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063521
Supporting Variants
Samples
Known GenesLCA5L, WRB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600206
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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