A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15199371



Internal ID21338167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78687702..78687772hg38UCSC Ensembl
chr8:79599937..79600007hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954243
Supporting Variants
SamplesHG002
Known GenesZC2HC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15199371
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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