A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182179



Internal ID21320975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122124329..122124412hg38UCSC Ensembl
chr12:122608876..122608959hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931264
Supporting Variants
SamplesHG002
Known GenesMLXIP
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182179
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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