A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946937



Internal ID18247101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148569111..148569771hg38UCSC Ensembl
Innerchr1:148304258..148304932hg19UCSC Ensembl
Innerchr1:146670882..146671556hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38661
hg19675
hg18675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2597277, nssv2597271, nssv2597213, nssv2597272, nssv2597214, nssv2597275, nssv2597270, nssv2597278, nssv2597211, nssv2597215, nssv2597216, nssv2597218, nssv2597274, nssv2597269, nssv2597212, nssv2597219, nssv2597220, nssv2597217, nssv2597273, nssv2597276
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946937
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