A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961895



Internal ID18597141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148216192..148220169hg38UCSC Ensembl
Innerchr2:148973761..148977738hg19UCSC Ensembl
Innerchr2:148690231..148694208hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg383978
hg193978
hg183978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2207729, nssv2207731, nssv2207725, nssv2207730, nssv2207728, nssv2207726, nssv2207722, nssv2207723, nssv2207724, nssv2207727
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMBD5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961895
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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