A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2664392



Internal ID17816885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91441118..91443785hg38UCSC Ensembl
Innerchr2:91633662..91636327hg19UCSC Ensembl
Innerchr2:90997389..91000054hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg382668
hg192666
hg182666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961960
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2664392
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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