A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945442



Internal ID18592293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247920898..247923083hg38UCSC Ensembl
Innerchr1:248084200..248086385hg19UCSC Ensembl
Innerchr1:246150823..246153008hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382186
hg192186
hg182186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1827874, nssv1827875, nssv1827869, nssv1827878, nssv1827877, nssv1827873, nssv1827872, nssv1827871, nssv1827876, nssv1827870
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOR2T8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945442
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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