A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434798



Internal ID21396800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157309969..157314968hg38UCSC Ensembl
chr6:157731001..157736000hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv723n172
Supporting Variantsnssv15754161, nssv15752403, nssv15750844, nssv15750581, nssv15746457, nssv15753348, nssv15751723
SamplesNB08, MDQ045, BTQ055, BTQ016, SMI041, SMI018, MDQ025
Known GenesTMEM242
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434798
Frequency
Sample Size15
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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