A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960067



Internal ID18595320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18572849..18617426hg38UCSC Ensembl
Innerchr17:18476163..18520739hg19UCSC Ensembl
Innerchr17:18416888..18461464hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3844578
hg1944577
hg1844577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2081206, nssv2081204, nssv2081208, nssv2080411, nssv2081209, nssv2081212, nssv2081207, nssv2081205, nssv2081211, nssv2081210
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC144B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960067
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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