A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946354



Internal ID18593204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143278133..143304755hg38UCSC Ensembl
Innerchr1:149005554..149031916hg19UCSC Ensembl
Innerchr1:147272178..147298540hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3826623
hg1926363
hg1826363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1795326, nssv1795322, nssv1795321, nssv1795330, nssv1795328, nssv1795329, nssv1795324, nssv1795325, nssv1795327, nssv1795323
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946354
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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