A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970610



Internal ID18259146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152243017..152244217hg38UCSC Ensembl
Innerchr7:151940102..151941302hg19UCSC Ensembl
Innerchr7:151571035..151572235hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2487656, nssv2487660, nssv2487653, nssv2487661, nssv2487657, nssv2487659, nssv2487654, nssv2487658, nssv2487655, nssv2487652
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970610
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