A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2666722



Internal ID17741936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94830616..94831576hg38UCSC Ensembl
Innerchr2:95496361..95497321hg19UCSC Ensembl
Innerchr2:94860088..94861048hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38961
hg19961
hg18961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961615
Supporting Variants
SamplesHGDP00456
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2666722
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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