A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977287



Internal ID18612493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18851934..18853412hg38UCSC Ensembl
Innerchr13:19426074..19427552hg19UCSC Ensembl
Innerchr13:18324074..18325552hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg381479
hg191479
hg181479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2619858, nssv2619914, nssv2619918, nssv2619856, nssv2619917, nssv2619855, nssv2619919, nssv2619853, nssv2619854, nssv2619857, nssv2619915, nssv2619913, nssv2619851, nssv2619860, nssv2619910, nssv2619859, nssv2619912, nssv2619911, nssv2619852, nssv2619916
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A9P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977287
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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