A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946621



Internal ID18246785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207506083..207507083hg38UCSC Ensembl
Innerchr1:207679428..207680428hg19UCSC Ensembl
Innerchr1:205746051..205747051hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816602, nssv1816597, nssv1816594, nssv1816599, nssv1816598, nssv1816596, nssv1816601, nssv1816600, nssv1816595, nssv1816593
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946621
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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