A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981910



Internal ID18617106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11328051..11332125hg38UCSC Ensembl
Innerchr8:11185560..11189634hg19UCSC Ensembl
Innerchr8:11222970..11227044hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384075
hg194075
hg184075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2493989, nssv2493992, nssv2493987, nssv2493994, nssv2493988, nssv2493990, nssv2493985, nssv2493991, nssv2493993, nssv2493986
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTMR9, SLC35G5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981910
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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