A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946927



Internal ID18247091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148559883..148560547hg38UCSC Ensembl
Innerchr1:148294962..148295636hg19UCSC Ensembl
Innerchr1:146661586..146662260hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38665
hg19675
hg18675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2598757, nssv2598755, nssv2598697, nssv2598760, nssv2598703, nssv2598699, nssv2598756, nssv2598696, nssv2598753, nssv2598702, nssv2598762, nssv2598761, nssv2598694, nssv2598698, nssv2598759, nssv2598695, nssv2598700, nssv2598701, nssv2598758, nssv2598754
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946927
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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