A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431643



Internal ID21393645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120042423..120050200hg38UCSC Ensembl
chr12:120480227..120488004hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg387778
hg197778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15751990
SamplesNB10
Known GenesCCDC64
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431643
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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