A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431808



Internal ID21393810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71795380..71796793hg38UCSC Ensembl
chr12:72189160..72190573hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381414
hg191414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175n172
Supporting Variantsnssv15751217, nssv15746049, nssv15753286, nssv15752482, nssv15754263, nssv15753370, nssv15748489, nssv15746610, nssv15750800, nssv15749020
SamplesNB08, BTQ038, BTQ055, MDQ010, BTQ016, SMI041, NB07, SMI018, MDQ025, NB09
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431808
Frequency
Sample Size15
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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