A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182761



Internal ID21321557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51197043..51197139hg38UCSC Ensembl
chr12:51590826..51590922hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3932504
Supporting Variants
SamplesHG002
Known GenesPOU6F1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182761
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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