A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970475



Internal ID18605697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48854937..48866412hg38UCSC Ensembl
Innerchr7:48894533..48906008hg19UCSC Ensembl
Innerchr7:48865079..48876554hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3811476
hg1911476
hg1811476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2447440, nssv2447437, nssv2447432, nssv2447433, nssv2447434, nssv2447439, nssv2447441, nssv2447435, nssv2447438, nssv2447436
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)nsv970475
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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