A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960781



Internal ID18596028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7747831..7763310hg38UCSC Ensembl
Innerchr19:7812717..7828196hg19UCSC Ensembl
Innerchr19:7718717..7734196hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3815480
hg1915480
hg1815480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2130167, nssv2130166, nssv2130162, nssv2130165, nssv2130168, nssv2130163, nssv2130159, nssv2130161, nssv2130160, nssv2130164
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCLEC4M
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960781
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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