A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961408



Internal ID18596654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61416498..61418465hg38UCSC Ensembl
Innerchr2:61643633..61645600hg19UCSC Ensembl
Innerchr2:61497137..61499104hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381968
hg191968
hg181968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173567, nssv2173565, nssv2173572, nssv2173568, nssv2173574, nssv2173569, nssv2173570, nssv2173566, nssv2173571, nssv2173573
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNORA70B, USP34
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961408
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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