A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961948



Internal ID18597194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5642624..5657386hg38UCSC Ensembl
Innerchr2:5782756..5797518hg19UCSC Ensembl
Innerchr2:5700207..5714969hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3814763
hg1914763
hg1814763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43n82
Supporting Variantsnssv2661705, nssv2661698, nssv2661700, nssv2661703, nssv2661697, nssv2661704, nssv2661699, nssv2661701, nssv2661706, nssv2661702
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961948
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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