A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980677



Internal ID18269191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71018060..71130308hg38UCSC Ensembl
Innerchr5:70313887..70426135hg19UCSC Ensembl
Innerchr5:70349643..70461891hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38112249
hg19112249
hg18112249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2363922, nssv2363918, nssv2363917, nssv2363921, nssv2363923, nssv2363919, nssv2363925, nssv2363916, nssv2363920, nssv2363924
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980677
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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