A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961904



Internal ID18250464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165991129..165992860hg38UCSC Ensembl
Innerchr2:166847639..166849370hg19UCSC Ensembl
Innerchr2:166555885..166557616hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381732
hg191732
hg181732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2210017, nssv2210011, nssv2210012, nssv2210009, nssv2210016, nssv2210015, nssv2210010, nssv2210014, nssv2210008, nssv2210013
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSCN1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961904
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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