A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946331



Internal ID18593181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120813812..120876737hg38UCSC Ensembl
Innerchr1:147968393..148026038hg19UCSC Ensembl
Innerchr1:146435017..146492767hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3862926
hg1957646
hg1857751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1796040, nssv1796035, nssv1796037, nssv1796033, nssv1796032, nssv1796039, nssv1796034, nssv1796036, nssv1796031, nssv1796038
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)nsv946331
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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