A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15751041



Internal ID21389749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42084199..42085198hg38UCSC Ensembl
chr12:42478001..42479000hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431769
Supporting Variants
SamplesNB10
Known GenesGXYLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15751041
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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