A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369266



Internal ID22594935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57261418..57267576hg38UCSC Ensembl
chr12:57655201..57661359hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg386159
hg196159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929614
Supporting Variants
Samples
Known GenesR3HDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369266
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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