A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196371



Internal ID21335167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736195..88736525hg38UCSC Ensembl
chr5:88032012..88032342hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934624
Supporting Variants
SamplesHG002
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196371
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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