A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977288



Internal ID18612494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18853412..18866834hg38UCSC Ensembl
Innerchr13:19427552..19440974hg19UCSC Ensembl
Innerchr13:18325552..18338974hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg3813423
hg1913423
hg1813423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2619928, nssv2619929, nssv2619923, nssv2619925, nssv2619927, nssv2619921, nssv2619926, nssv2619930, nssv2619924, nssv2619922
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)nsv977288
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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