A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17466611



Internal ID22524503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82749928..82751227hg38UCSC Ensembl
chr12:83143707..83145006hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864662
Supporting Variants
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17466611
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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