A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970571



Internal ID18605793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:112371575..112376337hg38UCSC Ensembl
Innerchr7:112011630..112016392hg19UCSC Ensembl
Innerchr7:111798866..111803628hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg384763
hg194763
hg184763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2475431, nssv2475432, nssv2475435, nssv2475428, nssv2475436, nssv2475433, nssv2475437, nssv2475434, nssv2475429, nssv2475430
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970571
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