A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961381



Internal ID18596627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11308052..11309452hg38UCSC Ensembl
Innerchr2:11448178..11449578hg19UCSC Ensembl
Innerchr2:11365629..11367029hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381401
hg191401
hg181401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2161989, nssv2161984, nssv2161987, nssv2161983, nssv2161982, nssv2161990, nssv2161985, nssv2161988, nssv2161986, nssv2161981
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesROCK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961381
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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