A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982221



Internal ID18270730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39195422..39216538hg38UCSC Ensembl
Innerchr9:39195419..39216535hg19UCSC Ensembl
Innerchr9:39185419..39206535hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3821117
hg1921117
hg1821117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2530975, nssv2530981, nssv2530976, nssv2530983, nssv2530984, nssv2530977, nssv2530979, nssv2530982, nssv2530978, nssv2530980
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCNTNAP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982221
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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