A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187912



Internal ID21326747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127648966..127648966hg38UCSC Ensembl
chr2:128406541..128406541hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3936534
Supporting Variants
SamplesHG002
Known GenesGPR17, LIMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187912
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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