A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434797



Internal ID21396799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157308969..157315968hg38UCSC Ensembl
chr6:157730001..157737000hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv723n172
Supporting Variantsnssv15747860, nssv15750091, nssv15753733, nssv15751059, nssv15746207, nssv15747164, nssv15748820, nssv15748714
SamplesNB12, SMI034, BTQ038, NB10, MDQ010, NB11, NB07, NB09
Known GenesTMEM242
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434797
Frequency
Sample Size15
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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