A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966329



Internal ID18254873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:153307253..153308442hg38UCSC Ensembl
Innerchr4:154228405..154229594hg19UCSC Ensembl
Innerchr4:154447855..154449044hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381190
hg191190
hg181190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2338710, nssv2338704, nssv2338709, nssv2338708, nssv2338713, nssv2338707, nssv2338706, nssv2338711, nssv2338705, nssv2338712
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesANXA2P1, TRIM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966329
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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