A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977933



Internal ID18613138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20553869..20607578hg38UCSC Ensembl
Innerchr16:20565191..20618900hg19UCSC Ensembl
Innerchr16:20472692..20526401hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3853710
hg1953710
hg1853710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2050701, nssv2050704, nssv2050699, nssv2050697, nssv2050703, nssv2050698, nssv2050696, nssv2050700, nssv2050695, nssv2050702
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACSM2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977933
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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