A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977895



Internal ID18613100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2582644..2586873hg38UCSC Ensembl
Innerchr16:2632645..2636874hg19UCSC Ensembl
Innerchr16:2572646..2576875hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384230
hg194230
hg184230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2040765, nssv2040764, nssv2040770, nssv2040769, nssv2040768, nssv2040762, nssv2040766, nssv2040763, nssv2040761, nssv2040767
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDPK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977895
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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