A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523068



Internal ID20896429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2770841..3469437hg38UCSC Ensembl
chr18:2770839..3469435hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38698597
hg19698597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185418
Samples
Known GenesEMILIN2, LOC727896, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523068
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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