A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945307



Internal ID18592158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222467824..222519952hg38UCSC Ensembl
Innerchr1:222641166..222693294hg19UCSC Ensembl
Innerchr1:220707789..220759917hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3852129
hg1952129
hg1852129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1818781, nssv1818775, nssv1818773, nssv1818774, nssv1818778, nssv1818776, nssv1818780, nssv1818782, nssv1818777, nssv1818779
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945307
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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