A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977194



Internal ID18612400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18962829..18965235hg38UCSC Ensembl
Innerchr13:19536969..19539375hg19UCSC Ensembl
Innerchr13:18434969..18437375hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382407
hg192407
hg182407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1950556, nssv1950562, nssv1950560, nssv1950561, nssv1950563, nssv1950555, nssv1950558, nssv1950559, nssv1950554, nssv1950557
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)nsv977194
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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