A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946323



Internal ID18246487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148228418..148235004hg38UCSC Ensembl
Innerchr1:147700690..147707276hg19UCSC Ensembl
Innerchr1:146167314..146173900hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386587
hg196587
hg186587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1794761, nssv1794756, nssv1794760, nssv1794762, nssv1794764, nssv1794763, nssv1794759, nssv1794757, nssv1794765, nssv1794758
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNBPF10, NBPF8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946323
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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