A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6617988



Internal ID20991059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99991301..99996200hg38UCSC Ensembl
chr6:100439177..100444076hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18229763
Samples
Known GenesMCHR2, MCHR2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6617988
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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