A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980670



Internal ID18269184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70409896..70482129hg38UCSC Ensembl
Innerchr5:69705723..69777956hg19UCSC Ensembl
Innerchr5:69741479..69813712hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3872234
hg1972234
hg1872234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2362429, nssv2362428, nssv2362433, nssv2362425, nssv2362430, nssv2362432, nssv2362427, nssv2362426, nssv2362431, nssv2362424
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4, SMA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980670
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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