A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946396



Internal ID18246560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153099343..153115862hg38UCSC Ensembl
Innerchr1:153071819..153088338hg19UCSC Ensembl
Innerchr1:151338443..151354962hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3816520
hg1916520
hg1816520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797929, nssv1797936, nssv1797934, nssv1797931, nssv1797933, nssv1797935, nssv1797930, nssv1797938, nssv1797937, nssv1797932
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPRR2F
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946396
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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