A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974559



Internal ID18609770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:39949660..39951575hg38UCSC Ensembl
Innerchr15:40241861..40243776hg19UCSC Ensembl
Innerchr15:38029153..38031068hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381916
hg191916
hg181916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2017981, nssv2017978, nssv2017980, nssv2017977, nssv2017982, nssv2017983, nssv2017975, nssv2017979, nssv2017974, nssv2017976
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF2AK4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974559
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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