A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979031



Internal ID18614234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85481947..85500394hg38UCSC Ensembl
Innerchr2:85709070..85727517hg19UCSC Ensembl
Innerchr2:85562581..85581028hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3818448
hg1918448
hg1818448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2178998, nssv2179005, nssv2179003, nssv2178997, nssv2178996, nssv2179000, nssv2179001, nssv2179002, nssv2178999, nssv2179004
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979031
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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