A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970481



Internal ID18605703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55724183..55748705hg38UCSC Ensembl
Innerchr7:55791876..55816398hg19UCSC Ensembl
Innerchr7:55759370..55783892hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3824523
hg1924523
hg1824523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2447904, nssv2447901, nssv2447903, nssv2447906, nssv2447900, nssv2447907, nssv2447902, nssv2447908, nssv2447909, nssv2447905
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970481
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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