A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979557



Internal ID18614759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13953292..13955049hg38UCSC Ensembl
Innerchr21:15325613..15327370hg19UCSC Ensembl
Innerchr21:14247484..14249241hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg381758
hg191758
hg181758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2678764, nssv2678768, nssv2678765, nssv2678763, nssv2678767, nssv2678766, nssv2678770, nssv2678762, nssv2678771, nssv2678769
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A11P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979557
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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