A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18137670



Internal ID20704710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127314501..127316000hg38UCSC Ensembl
chr6:127635646..127637145hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606818
Supporting Variants
Samples
Known GenesECHDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18137670
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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