A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397109



Internal ID21054662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140405922..140409806hg38UCSC Ensembl
chr5:139785507..139789391hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383885
hg193885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125151
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397109
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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