A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946372



Internal ID18593222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149655135..149679751hg38UCSC Ensembl
Innerchr1:149626662..149651335hg19UCSC Ensembl
Innerchr1:147893286..147917959hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3824617
hg1924674
hg1824674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797089, nssv1797088, nssv1797097, nssv1797094, nssv1797093, nssv1797090, nssv1797091, nssv1797092, nssv1797095, nssv1797096
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC00869
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946372
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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