A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965240



Internal ID18600474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184026344..184028391hg38UCSC Ensembl
Innerchr3:183744132..183746179hg19UCSC Ensembl
Innerchr3:185226826..185228873hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg382048
hg192048
hg182048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2304963, nssv2304962, nssv2304961, nssv2304959, nssv2304958, nssv2304964, nssv2304955, nssv2304956, nssv2304960, nssv2304957
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965240
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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