A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945386



Internal ID18592237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236980904..236982003hg38UCSC Ensembl
Innerchr1:237144204..237145303hg19UCSC Ensembl
Innerchr1:235210827..235211926hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381100
hg191100
hg181100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1824018, nssv1824027, nssv1824020, nssv1824024, nssv1824022, nssv1824023, nssv1824025, nssv1824021, nssv1824026, nssv1824019
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)nsv945386
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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