A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974572



Internal ID18609783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49156080..49158424hg38UCSC Ensembl
Innerchr15:49448277..49450621hg19UCSC Ensembl
Innerchr15:47235569..47237913hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg382345
hg192345
hg182345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2022756, nssv2023798, nssv2023800, nssv2023805, nssv2023803, nssv2023802, nssv2023801, nssv2023804, nssv2023799, nssv2022757
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGALK2, NDUFAF4P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974572
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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