A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977738



Internal ID18612944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:75479999..75484614hg38UCSC Ensembl
Innerchr15:75772340..75776955hg19UCSC Ensembl
Innerchr15:73559393..73564010hg18UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg384616
hg194616
hg184618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2031191, nssv2031197, nssv2031196, nssv2031199, nssv2031192, nssv2031193, nssv2031194, nssv2031200, nssv2031198, nssv2031195
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTPN9
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977738
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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