A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17149514



Internal ID21468454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56864497..56864497hg38UCSC Ensembl
chr6:56729295..56729295hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381082
hg191082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643017
Supporting Variants
SamplesHG03125
Known GenesDST
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17149514
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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