A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972676



Internal ID18261206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39061821..39077101hg38UCSC Ensembl
Innerchr9:39061818..39077098hg19UCSC Ensembl
Innerchr9:39051818..39067098hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3815281
hg1915281
hg1815281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2529726, nssv2529733, nssv2529731, nssv2529725, nssv2529730, nssv2529727, nssv2529732, nssv2529728, nssv2529734, nssv2529729
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCNTNAP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972676
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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