A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946528



Internal ID18246692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180431286..180436706hg38UCSC Ensembl
Innerchr1:180400421..180405841hg19UCSC Ensembl
Innerchr1:178667044..178672464hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385421
hg195421
hg185421
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808524, nssv1808531, nssv1808525, nssv1808527, nssv1808528, nssv1808523, nssv1808522, nssv1808530, nssv1808529, nssv1808526
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesACBD6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946528
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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