A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946977



Internal ID18247141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149488099..149518007hg38UCSC Ensembl
Innerchr1:148589747..148591098hg19UCSC Ensembl
Innerchr1:146856371..146857722hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3829909
hg191352
hg181352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2599174, nssv2599114, nssv2600104, nssv2599116, nssv2599113, nssv2599118, nssv2599177, nssv2599122, nssv2599176, nssv2599120, nssv2599172, nssv2599178, nssv2599115, nssv2599117, nssv2599179, nssv2599173, nssv2599121, nssv2599171, nssv2599119, nssv2599175
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF15, NBPF16
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946977
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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