A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963777



Internal ID18599017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230513803..230519976hg38UCSC Ensembl
Innerchr2:231378518..231384691hg19UCSC Ensembl
Innerchr2:231086762..231092935hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386174
hg196174
hg186174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2223895, nssv2223888, nssv2223892, nssv2223887, nssv2223894, nssv2223890, nssv2223886, nssv2223891, nssv2223893, nssv2223889
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSP100
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963777
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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