A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945980



Internal ID18246144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64984260..64985707hg38UCSC Ensembl
Innerchr1:65449943..65451390hg19UCSC Ensembl
Innerchr1:65222531..65223978hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381448
hg191448
hg181448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1769884, nssv1769883, nssv1769876, nssv1769875, nssv1769880, nssv1769877, nssv1769882, nssv1769878, nssv1769879, nssv1769881
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945980
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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