A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945300



Internal ID18592151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220448120..220449359hg38UCSC Ensembl
Innerchr1:220621462..220622701hg19UCSC Ensembl
Innerchr1:218688085..218689324hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381240
hg191240
hg181240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1819025, nssv1819019, nssv1819020, nssv1819016, nssv1819022, nssv1819018, nssv1819017, nssv1819023, nssv1819024, nssv1819021
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945300
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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