A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15183406



Internal ID21322202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78061615..78061731hg38UCSC Ensembl
chr1:78527299..78527415hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952072
Supporting Variants
SamplesHG002
Known GenesGIPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15183406
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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