A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15197480



Internal ID21336276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60819064..60819134hg38UCSC Ensembl
chr5:60114891..60114961hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3951945
Supporting Variants
SamplesHG002
Known GenesELOVL7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15197480
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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