A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970547



Internal ID18259083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:85027943..85029652hg38UCSC Ensembl
Innerchr7:84657259..84658968hg19UCSC Ensembl
Innerchr7:84495195..84496904hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381710
hg191710
hg181710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2468208, nssv2468207, nssv2468209, nssv2468203, nssv2468211, nssv2468204, nssv2468205, nssv2468210, nssv2468212, nssv2468206
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSEMA3D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970547
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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