A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644100



Internal ID21592405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87290526..87290526hg38UCSC Ensembl
chr6:88000244..88000244hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150913
SamplesHG03125
Known GenesGJB7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644100
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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