A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945931



Internal ID18592781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48436209..48437312hg38UCSC Ensembl
Innerchr1:48901881..48902984hg19UCSC Ensembl
Innerchr1:48674468..48675571hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381104
hg191104
hg181104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1764755, nssv1764759, nssv1764762, nssv1764756, nssv1764758, nssv1764761, nssv1764757, nssv1764754, nssv1764760, nssv1764753
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPATA6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945931
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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