A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974345



Internal ID18609556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60969887..60972566hg38UCSC Ensembl
Innerchr14:61436605..61439284hg19UCSC Ensembl
Innerchr14:60506358..60509037hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382680
hg192680
hg182680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988957, nssv1988953, nssv1988950, nssv1988956, nssv1988959, nssv1988954, nssv1988958, nssv1988951, nssv1988955, nssv1988952
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTRMT5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974345
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