A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972318



Internal ID18260848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39280663..39285270hg38UCSC Ensembl
Innerchr9:39280660..39285267hg19UCSC Ensembl
Innerchr9:39270660..39275267hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg384608
hg194608
hg184608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2531135, nssv2531142, nssv2531138, nssv2531143, nssv2531137, nssv2531140, nssv2531141, nssv2531144, nssv2531139, nssv2531136
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)nsv972318
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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