A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946215



Internal ID18593065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:8811716..8837910hg38UCSC Ensembl
Innerchr1:143252615..143278754hg19UCSC Ensembl
Innerchr1:142094138..142120277hg18UCSC Ensembl
Cytoband1q12
Allele length
AssemblyAllele length
hg3826195
hg1926140
hg1826140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1787041, nssv2574992, nssv1787037, nssv1787040, nssv2574995, nssv2574999, nssv2574991, nssv2574989, nssv1787038, nssv2574990, nssv1787039, nssv1787044, nssv2574997, nssv2574993, nssv1787043, nssv2574994, nssv2574998, nssv1787036, nssv1787042, nssv1787045
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946215
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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