A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962258



Internal ID18597502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13665775..13678541hg38UCSC Ensembl
Innerchr17:13569092..13581858hg19UCSC Ensembl
Innerchr17:13509817..13522583hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3812767
hg1912767
hg1812767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2076992, nssv2076995, nssv2076997, nssv2076990, nssv2076998, nssv2076991, nssv2076994, nssv2076996, nssv2076999, nssv2076993
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)nsv962258
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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