A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945330



Internal ID18245518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226071371..226072183hg38UCSC Ensembl
Innerchr1:226259072..226259884hg19UCSC Ensembl
Innerchr1:224325695..224326507hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1820315, nssv1820308, nssv1820314, nssv1820316, nssv1820317, nssv1820312, nssv1820311, nssv1820309, nssv1820310, nssv1820313
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945330
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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