A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5863866



Internal ID22638801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53998179..53999746hg38UCSC Ensembl
chr12:54391963..54393530hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381568
hg191568
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17462189, nssv17466179
Samples
Known GenesHOXC-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5863866
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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