A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945271



Internal ID18592122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208692795..208715436hg38UCSC Ensembl
Innerchr1:208866140..208888781hg19UCSC Ensembl
Innerchr1:206932763..206955404hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3822642
hg1922642
hg1822642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815697, nssv1815700, nssv1815694, nssv1815699, nssv1815696, nssv1815695, nssv1815703, nssv1815701, nssv1815702, nssv1815698
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)nsv945271
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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