A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964609



Internal ID18599846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24287361..24287861hg38UCSC Ensembl
Innerchr22:24683329..24683829hg19UCSC Ensembl
Innerchr22:23013329..23013829hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2262605, nssv2262608, nssv2262603, nssv2262610, nssv2262602, nssv2262609, nssv2262607, nssv2262606, nssv2262611, nssv2262604
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPECC1L, SPECC1L-ADORA2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964609
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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