A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962248



Internal ID18597492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3396407..3398386hg38UCSC Ensembl
Innerchr17:3299701..3301680hg19UCSC Ensembl
Innerchr17:3246451..3248430hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381980
hg191980
hg181980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2073160, nssv2073156, nssv2073162, nssv2073153, nssv2073155, nssv2073159, nssv2073161, nssv2073158, nssv2073157, nssv2073154
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOR1E1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962248
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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