A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946481



Internal ID18246645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165669823..165677032hg38UCSC Ensembl
Innerchr1:165639060..165646269hg19UCSC Ensembl
Innerchr1:163905684..163912893hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg387210
hg197210
hg187210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1806012, nssv1806018, nssv1806013, nssv1806020, nssv1806016, nssv1806014, nssv1806015, nssv1806019, nssv1806021, nssv1806017
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesALDH9A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946481
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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