A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981610



Internal ID18270121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152185356..152185944hg38UCSC Ensembl
Innerchr7:151882441..151883029hg19UCSC Ensembl
Innerchr7:151513374..151513962hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2488251, nssv2488250, nssv2488245, nssv2488253, nssv2488244, nssv2488252, nssv2488247, nssv2488246, nssv2488249, nssv2488248
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981610
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer