A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970934



Internal ID18606156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:124475976..124477926hg38UCSC Ensembl
Innerchr7:124116030..124117980hg19UCSC Ensembl
Innerchr7:123903266..123905216hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg381951
hg191951
hg181951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2476546, nssv2476555, nssv2476549, nssv2476554, nssv2476553, nssv2476551, nssv2476550, nssv2476547, nssv2476548, nssv2476552
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)nsv970934
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