A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946093



Internal ID18592943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99695991..99701566hg38UCSC Ensembl
Innerchr1:100161547..100167122hg19UCSC Ensembl
Innerchr1:99934135..99939710hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385576
hg195576
hg185576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1776843, nssv1776847, nssv1776839, nssv1776845, nssv1776842, nssv1776846, nssv1776838, nssv1776841, nssv1776840, nssv1776844
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR548AA1, MIR548D1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946093
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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