A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979177



Internal ID18614380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222044138..222045559hg38UCSC Ensembl
Innerchr2:222908857..222910278hg19UCSC Ensembl
Innerchr2:222617101..222618522hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381422
hg191422
hg181422
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2222020, nssv2222023, nssv2222021, nssv2222019, nssv2222024, nssv2222016, nssv2222022, nssv2222017, nssv2222015, nssv2222018
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979177
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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