A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973093



Internal ID18261622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76045528..76048557hg38UCSC Ensembl
Innerchr12:76439308..76442337hg19UCSC Ensembl
Innerchr12:74725575..74728604hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383030
hg193030
hg183030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1938632, nssv1938635, nssv1938630, nssv1938634, nssv1938628, nssv1938631, nssv1938633, nssv1938636, nssv1938629, nssv1938637
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNAP1L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973093
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