A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15181932



Internal ID21320728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13046134..13046238hg38UCSC Ensembl
chr12:13199068..13199172hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950946
Supporting Variants
SamplesHG002
Known GenesKIAA1467
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15181932
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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