A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15197349



Internal ID21336145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72941666..72941724hg38UCSC Ensembl
chr6:73651389..73651447hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949453
Supporting Variants
SamplesHG002
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15197349
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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