A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946395



Internal ID18246559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153069954..153097482hg38UCSC Ensembl
Innerchr1:153042430..153069958hg19UCSC Ensembl
Innerchr1:151309054..151336582hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3827529
hg1927529
hg1827529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797836, nssv1797840, nssv1797839, nssv1797838, nssv1797834, nssv1797832, nssv1797841, nssv1797837, nssv1797833, nssv1797835
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPRR2B, SPRR2E
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946395
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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