A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434997



Internal ID21396999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57436203..60641253hg38UCSC Ensembl
chr6:57301001..57609000hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383205051
hg19308000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv702n172
Supporting Variantsnssv15748426, nssv15746220, nssv15748997, nssv15751023, nssv15747784, nssv15753547, nssv15747823, nssv15754136, nssv15754534, nssv15746714, nssv15749234
SamplesNB12, NB08, MDQ045, BTQ038, NB10, BTQ055, BTQ016, NB11, NB07, MDQ025, NB09
Known GenesPRIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434997
Frequency
Sample Size15
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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