A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945774



Internal ID18245939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12774773..12901520hg38UCSC Ensembl
Innerchr1:12834916..12961351hg19UCSC Ensembl
Innerchr1:12757503..12883938hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38126748
hg19126436
hg18126436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1754200, nssv1754203, nssv1754205, nssv1754206, nssv1754197, nssv1754198, nssv1754199, nssv1754204, nssv1754202, nssv1754201
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945774
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