A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061454



Internal ID18803985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39386047..39893479hg38UCSC Ensembl
Innerchr21:40757973..41265404hg19UCSC Ensembl
Innerchr21:39679843..40187274hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38507433
hg19507432
hg18507432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733451
Samples
Known GenesB3GALT5, C21orf88, IGSF5, LCA5L, MIR6508, PCP4, SH3BGR, WRB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061454
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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