A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971996



Internal ID18607212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:24890632..24892316hg38UCSC Ensembl
Innerchr11:24912178..24913862hg19UCSC Ensembl
Innerchr11:24868754..24870438hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg381685
hg191685
hg181685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1880432, nssv1880426, nssv1880430, nssv1880434, nssv1880428, nssv1880431, nssv1880427, nssv1880429, nssv1880425, nssv1880433
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLUZP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971996
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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