A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2304335



Internal ID17538208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179237273..179243763hg38UCSC Ensembl
Innerchr3:178955061..178961551hg19UCSC Ensembl
Innerchr3:180437755..180444245hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg386491
hg196491
hg186491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967093
Supporting Variants
SamplesHGDP01307
Known GenesKCNMB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2304335
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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