A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979231



Internal ID18614434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94814109..94821021hg38UCSC Ensembl
Innerchr2:95479854..95486766hg19UCSC Ensembl
Innerchr2:94843581..94850493hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg386913
hg196913
hg186913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n82
Supporting Variantsnssv2674848, nssv2674849, nssv2674844, nssv2674847, nssv2674851, nssv2674845, nssv2674852, nssv2674846, nssv2674843, nssv2674850
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979231
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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