A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966992



Internal ID18602221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:17463403..17466682hg38UCSC Ensembl
Innerchr3:17504895..17508174hg19UCSC Ensembl
Innerchr3:17479899..17483178hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg383280
hg193280
hg183280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2275020, nssv2275022, nssv2275016, nssv2275019, nssv2275023, nssv2275017, nssv2275024, nssv2275025, nssv2275018, nssv2275021
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTBC1D5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966992
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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