A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962694



Internal ID18597937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13949884..13953292hg38UCSC Ensembl
Innerchr21:15322205..15325613hg19UCSC Ensembl
Innerchr21:14244076..14247484hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg383409
hg193409
hg183409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2678750, nssv2678757, nssv2678754, nssv2678752, nssv2678693, nssv2678756, nssv2678697, nssv2678698, nssv2678751, nssv2678695, nssv2678694, nssv2678696, nssv2678758, nssv2678759, nssv2678692, nssv2678753, nssv2678701, nssv2678700, nssv2678755, nssv2678699
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)nsv962694
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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