A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2678752



Internal ID17807892
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 StatusS
Merged Variantsnsv962694
Supporting Variants
SamplesHGDP00778
Known GenesANKRD20A11P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2678752
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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