A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946467



Internal ID18593317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161591243..161594892hg38UCSC Ensembl
Innerchr1:161561033..161564682hg19UCSC Ensembl
Innerchr1:159827657..159831306hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383650
hg193650
hg183650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804791, nssv1804790, nssv1804789, nssv1804785, nssv1804788, nssv1804786, nssv1804792, nssv1804783, nssv1804787, nssv1804784
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946467
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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