A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974651



Internal ID18609862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49479227..49484986hg38UCSC Ensembl
Innerchr15:49771424..49777183hg19UCSC Ensembl
Innerchr15:47558716..47564475hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg385760
hg195760
hg185760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2627626, nssv2627628, nssv2627629, nssv2627631, nssv2627633, nssv2627630, nssv2627632, nssv2627625, nssv2627627, nssv2627634
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM227B, FGF7
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974651
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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