A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15197292



Internal ID21336088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44390906..44390970hg38UCSC Ensembl
chr6:44358643..44358707hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949445
Supporting Variants
SamplesHG002
Known GenesCDC5L
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15197292
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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