A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979876



Internal ID18615077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128762765..128766209hg38UCSC Ensembl
Innerchr3:128481608..128485052hg19UCSC Ensembl
Innerchr3:129964298..129967742hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg383445
hg193445
hg183445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2294707, nssv2294705, nssv2294703, nssv2294706, nssv2294708, nssv2294709, nssv2294704, nssv2294711, nssv2294710, nssv2294702
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAB7A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979876
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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