A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945806



Internal ID18245970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19267253..19272269hg38UCSC Ensembl
Innerchr1:19593747..19598763hg19UCSC Ensembl
Innerchr1:19466334..19471350hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385017
hg195017
hg185017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1755066, nssv1755073, nssv1755067, nssv1755065, nssv1755074, nssv1755071, nssv1755069, nssv1755070, nssv1755072, nssv1755068
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAKR7L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945806
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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