A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979101



Internal ID18267618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112355557..112430519hg38UCSC Ensembl
Innerchr2:113113134..113188096hg19UCSC Ensembl
Innerchr2:112829605..112904567hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3874963
hg1974963
hg1874963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2198370, nssv2198367, nssv2198366, nssv2198369, nssv2198365, nssv2198371, nssv2198363, nssv2198364, nssv2198368, nssv2198372
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRGPD5, RGPD8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979101
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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