A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946220



Internal ID18593070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143964558..144020623hg38UCSC Ensembl
Innerchr1:143905715..143961793hg19UCSC Ensembl
Innerchr1:142617060..142673143hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3856066
hg1956079
hg1856084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1788406, nssv1788411, nssv1788409, nssv1788410, nssv1788415, nssv1788413, nssv1788412, nssv1788408, nssv1788414, nssv1788407
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM72D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946220
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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