A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963297



Internal ID18251852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12838509..12841338hg38UCSC Ensembl
Innerchr3:12880008..12882837hg19UCSC Ensembl
Innerchr3:12855008..12857837hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg382830
hg192830
hg182830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2273049, nssv2273042, nssv2273051, nssv2273043, nssv2273044, nssv2273047, nssv2273046, nssv2273045, nssv2273050, nssv2273048
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRPL32, SNORA7A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963297
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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