A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432111



Internal ID21394113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50942184..50942827hg38UCSC Ensembl
chr14:51408902..51409545hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv236n172
Supporting Variantsnssv15745746, nssv15753549, nssv15753910, nssv15751381, nssv15752437, nssv15753909, nssv15747446, nssv15745725, nssv15751945, nssv15749398, nssv15751350, nssv15754416, nssv15745890, nssv15752767
SamplesNB12, SMI034, NB08, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known GenesPYGL
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432111
Frequency
Sample Size15
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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