A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972451



Internal ID18607667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125595624..125597693hg38UCSC Ensembl
Innerchr9:128357903..128359972hg19UCSC Ensembl
Innerchr9:127397724..127399793hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382070
hg192070
hg182070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2568328, nssv2568320, nssv2568322, nssv2568327, nssv2568321, nssv2568324, nssv2568323, nssv2568326, nssv2568325, nssv2568329
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAPKAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972451
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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