A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972081



Internal ID18260611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:123597862..123599405hg38UCSC Ensembl
Innerchr11:123468570..123470113hg19UCSC Ensembl
Innerchr11:122973780..122975323hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1908523, nssv1908515, nssv1908519, nssv1908524, nssv1908517, nssv1908522, nssv1908520, nssv1908518, nssv1908521, nssv1908516
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGRAMD1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972081
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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