A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434991



Internal ID21396993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57340203..57420202hg38UCSC Ensembl
chr6:57205001..57285000hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3880000
hg1980000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv701n172
Supporting Variantsnssv15746735, nssv15753857, nssv15746415, nssv15751020, nssv15745776, nssv15752948, nssv15754681, nssv15748171, nssv15754577, nssv15752202, nssv15752823, nssv15748692
SamplesNB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, NB11, NB07, SMI018, MDQ025, NB09
Known GenesPRIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434991
Frequency
Sample Size15
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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