A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981580



Internal ID18616777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131519399..131521853hg38UCSC Ensembl
Innerchr7:131204158..131206612hg19UCSC Ensembl
Innerchr7:130854698..130857152hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg382455
hg192455
hg182455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2476764, nssv2476768, nssv2476766, nssv2476760, nssv2476761, nssv2476767, nssv2476763, nssv2476765, nssv2476769, nssv2476762
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPODXL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981580
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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