A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974547



Internal ID18263072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30621455..30643838hg38UCSC Ensembl
Innerchr15:30913658..30936041hg19UCSC Ensembl
Innerchr15:28700950..28723333hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg3822384
hg1922384
hg1822384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2015623, nssv2015622, nssv2015627, nssv2015626, nssv2015625, nssv2015618, nssv2015621, nssv2015619, nssv2015624, nssv2015620
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesARHGAP11B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974547
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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